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{{Underlinked|date=June 2018}}
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{{Infobox_gene}}
{{Infobox_gene}}
'''Protein ITFG3''' also known as '''family with sequence similarity 234 member A''' ('''FAM234A''') is a [[protein]] that in humans is encoded by the ''ITFG3'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: ITFG3 integrin alpha FG-GAP repeat containing 3| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=83986| access-date = }}</ref><ref>{{Cite web|url=https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=14163|title=FAM234A Symbol Report {{!}} HUGO Gene Nomenclature Committee|website=www.genenames.org|access-date=2018-02-20}}</ref> Here, the gene is explored as encoded by [[Messenger RNA|mRNA]] found in ''Homo sapiens''. The FAM234A gene is conserved in mice, rats, chickens, zebrafish, dogs, cows, frogs, chimpanzees, and rhesus monkeys.<ref name="Entrez_gene">{{Cite web|url=https://www.ncbi.nlm.nih.gov/gene?cmd=retrieve&list_uids=83986|title=FAM234A family with sequence similarity 234 member A [Homo sapiens (human)] - Gene - NCBI|website=www.ncbi.nlm.nih.gov|access-date=2018-02-20}}</ref> [[Orthologs]] of the gene can be found in at least 220 organisms including the tropical clawed frog, pandas, and Chinese hamsters.<ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/gene/?Term=ortholog_gene_83986[group|title=NCBI GENE Ortholog Search|last=|first=|date=|website=|access-date=}}</ref> The gene is located at [[Chromosome 16 (human)|16]]p13.3 and has a total of 19 exons. The mRNA has a total of 3224 bp and the protein has 552 aa.<ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/protein/14042970|title=protein FAM234A [Homo sapiens] - Protein - NCBI|website=www.ncbi.nlm.nih.gov|access-date=2018-02-20}}</ref><ref name="Entrez_gene" /> The molecular mass of the protein produced by this gene is 59660 Da.<ref name=":1">{{Cite web|url=https://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM234A|title=FAM234A Gene - GeneCards {{!}} F234A Protein {{!}} F234A Antibody|last=Database|first=GeneCards Human Gene|website=www.genecards.org|access-date=2018-02-20}}</ref> It is expressed in at least 27 tissue types in humans, with the greatest presence in the [[duodenum]], [[fat]], [[small intestine]], and [[heart]].<ref name="Entrez_gene" />
'''Protein ITFG3''' is a [[protein]] that in humans is encoded by the ''ITFG3'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: ITFG3 integrin alpha FG-GAP repeat containing 3| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=83986| access-date = }}</ref>

A “Newfoundland deletion” or a<sup>0</sup>-thalassemia deletion has been found within the second intervening sequence of the FAM234A gene.<ref>{{cite journal | vauthors = Waye JS, Eng B, Hanna M, Hohenadel BA, Nakamura L, Walker L | title = α0-Thalassemia Due to a 90.7 kb Deletion (-/-NFLD) | journal = Hemoglobin | volume = 41 | issue = 3 | pages = 218–219 | date = May 2017 | pmid = 28838269 | doi = 10.1080/03630269.2017.1369987 }}</ref> The gene is associated with multiple [[red blood cell]] phenotypes in [[African Americans]] – though the exact function or effect of the gene was not entirely clear.<ref>{{cite journal | vauthors = Chen Z, Tang H, Qayyum R, Schick UM, Nalls MA, Handsaker R, Li J, Lu Y, Yanek LR, Keating B, Meng Y, van Rooij FJ, Okada Y, Kubo M, Rasmussen-Torvik L, Keller MF, Lange L, Evans M, Bottinger EP, Linderman MD, Ruderfer DM, Hakonarson H, Papanicolaou G, Zonderman AB, Gottesman O, Thomson C, Ziv E, Singleton AB, Loos RJ, Sleiman PM, Ganesh S, McCarroll S, Becker DM, Wilson JG, Lettre G, Reiner AP | display-authors = 6 | title = Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network | journal = Human Molecular Genetics | volume = 22 | issue = 12 | pages = 2529–38 | date = June 2013 | pmid = 23446634 | pmc = 3658166 | doi = 10.1093/hmg/ddt087 | url = https://www.ncbi.nlm.nih.gov/pubmed/?term=ITFG3 }}</ref> Review of [[GeneCards|GeneCards’]] current database on the FAM234A gene provided no additional elucidation on the function of the gene.<ref name=":1" />

== Gene ==
FAM234A is located on [[Chromosome 16 open reading frame 13|Chromosome 16]] (234,546 - 269, 943). It is 35,398 bases long, contains 11 exons, and is oriented on the plus strand in the 5' to 3' direction. Other aliases include [[ITFG3]], C16orf9, and gs19.

There are no known paralogs of FAM234A.

The FAM234A gene is conserved in at least 220 organisms, with no evidence for conservation of the gene in single celled organisms. Listed below is a selection of [[Homology (biology)|orthologs]] with the estimated date of divergence from human lineage in million years ago (MYA), the accession number, and the % identity to human FAM234A. This list does not contain all of the known orthologs.
{| class="wikitable"
|+Selection of Organisms with FAM234A Orthologs
!Common Name
!Divergence from Human Lineage (MYA)
!Accession Number
!Identity to Human (%)
|-
|Rhesus Monkey
|28.1
|NP_001253283.1
|95
|-
|White-tufted-ear marmoset
|42.6
|XP_009007067.1
|86
|-
|House mouse
|88
|NP_001344823.1
|86
|-
|Chinese Hamster
|88
|XP_003501607.1
|77
|-
|Upper Galilee mountains blind mole rat
|88
|XP_008849023.1
|74
|-
|Golden Hamster
|88
|XP_005081607.1
|76
|-
|Giant Panda
|94
|XP_011224429.1
|73
|-
|Horse
|94
|XP_014585783.1
|74
|-
|Beluga Whale
|94
|XP_022450014.1
|73
|-
|Chicken
|320
|XP_414950.2
|45
|-
|Blue Tit
|320
|XP_023792271.1
|43
|-
|Bengalese Finch
|320
|XP_021404267.1
|44
|-
|Central Bearded Dragon
|320
|XP_020667631.1
|43
|-
|Australian saltwater crocodile
|320
|XP_019395600.1
|47
|-
|Tropical Clawed Frog
|353
|NP_001121517.1
|35
|-
|Zebrafish
|432
|XP_001336768.2
|31
|-
|Barramundi Perch
|432
|XP_018520114.1
|34
|-
|Japanese Medaka
|432
|XP_020567870.1
|33
|-
|Elephant Shark
|465
|XP_007906598.1
|37
|-
|Rat
|88
|NP_001009701.1
|72
|}

== mRNA ==
There are at least 11 FAM234A [[Protein isoform|isoforms]]. Aside from the longest transcript, the other isoforms differ by truncation, primarily at the 3' end. This results in a wide variation in sequence length between isoforms.

== Protein ==
[[File:Predicted Structure of FAM234A.png|thumb|Predicted Structure of FAM234A<ref name="zhanglab.ccmb.med.umich.edu">{{Cite web|url=https://zhanglab.ccmb.med.umich.edu/I-TASSER/|title=I-TASSER server for protein structure and function prediction|website=zhanglab.ccmb.med.umich.edu|access-date=2018-05-06}}</ref>]]
The FAM234A gene encodes a [[serine]] and [[leucine]] rich protein titled the "FAM234A Protein" or ITFG3. The encoded protein is 552 amino acids in length with a predicted molecular weight of 59,660Da and a basal isoelectric point of 5.84.<ref>{{Cite web|url=https://www.phosphosite.org/proteinAction?id=24315&showAllSites=true)|title=ITFG3 (human)|website=www.phosphosite.org|access-date=2018-05-06}}</ref> The FAM234A protein has a notable hydrophobic region from position 49-70 in the amino acid sequence that correlates with one of the two trans-membrane regions found on FAM234A.<ref name=":2">{{Cite web|url=https://www.ebi.ac.uk/Tools/seqstats/saps/|title=SAPS < Sequence Statistics < EMBL-EBI|last=EMBL-EBI|website=www.ebi.ac.uk|language=en|access-date=2018-05-06}}</ref> FAM234A has membrane topology type 3a, indicating multiple trans-membrane regions with it's N-terminus facing the cytosol. The protein is predicted to be located in the [[endoplasmic reticulum]], with portions of it found within the endoplasmic reticulum lumen.<ref name=":2" /> Within the cell, FAM234A has also been localized to the [[ribosome]]s and [[Cell nucleus|nucleus]].<ref>{{Cite web|url=https://www.proteinatlas.org/ENSG00000167930-FAM234A/cell|title=Cell atlas - FAM234A - The Human Protein Atlas|website=www.proteinatlas.org|access-date=2018-05-06}}</ref>
[[File:Predicted Secondary Structure of FAM234A.png|center|thumb|550x550px|'''Predicted Features of FAM234A Secondary Structure.''' Numbered according to amino acid in the FAM234A protein, areas where there is a predicted alpha-helix are highlighted in yellow.  Areas that are predicted to be beta-strands are highlighted in green.]]

== Expression ==
[[File:Expression of FAM234A in the Brain.png|thumb|550x550px|'''Increased Expression of FAM234A in Thalamus, Pons, Myelencephalon, and Cerebellum'''<ref name="zhanglab.ccmb.med.umich.edu"/>]]
FAM234A is expressed in tissues throughout the human body. However, there is notable elevation in expression in the [[duodenum]], fat, [[small intestine]], [[heart]], and through the [[thalamus]], [[pons]], [[myelencephalon]], and [[cerebellum]]. The regions of the brain with significant FAM234A expression are involved in relaying sensory information and the autonomic nervous system.


== References ==
== References ==

Revision as of 06:24, 3 July 2018

FAM234A
Identifiers
AliasesFAM234A, C16orf9, gs19, ITFG3, family with sequence similarity 234 member A
External IDsMGI: 2146854 HomoloGene: 12932 GeneCards: FAM234A
Orthologs
SpeciesHumanMouse
Entrez

83986

106581

Ensembl

ENSG00000167930

ENSMUSG00000024187

UniProt

Q9H0X4

Q8C0Z1

RefSeq (mRNA)

NM_001284497
NM_032039

NM_001206335
NM_207217
NM_001357894
NM_001374603

RefSeq (protein)

NP_001271426
NP_114428

NP_001193264
NP_997100
NP_001344823

Location (UCSC)Chr 16: 0.23 – 0.27 MbChr 17: 26.21 – 26.24 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Protein ITFG3 also known as family with sequence similarity 234 member A (FAM234A) is a protein that in humans is encoded by the ITFG3 gene.[5][6] Here, the gene is explored as encoded by mRNA found in Homo sapiens. The FAM234A gene is conserved in mice, rats, chickens, zebrafish, dogs, cows, frogs, chimpanzees, and rhesus monkeys.[7] Orthologs of the gene can be found in at least 220 organisms including the tropical clawed frog, pandas, and Chinese hamsters.[8] The gene is located at 16p13.3 and has a total of 19 exons. The mRNA has a total of 3224 bp and the protein has 552 aa.[9][7] The molecular mass of the protein produced by this gene is 59660 Da.[10] It is expressed in at least 27 tissue types in humans, with the greatest presence in the duodenum, fat, small intestine, and heart.[7]

A “Newfoundland deletion” or a0-thalassemia deletion has been found within the second intervening sequence of the FAM234A gene.[11] The gene is associated with multiple red blood cell phenotypes in African Americans – though the exact function or effect of the gene was not entirely clear.[12] Review of GeneCards’ current database on the FAM234A gene provided no additional elucidation on the function of the gene.[10]

Gene

FAM234A is located on Chromosome 16 (234,546 - 269, 943). It is 35,398 bases long, contains 11 exons, and is oriented on the plus strand in the 5' to 3' direction. Other aliases include ITFG3, C16orf9, and gs19.

There are no known paralogs of FAM234A.

The FAM234A gene is conserved in at least 220 organisms, with no evidence for conservation of the gene in single celled organisms. Listed below is a selection of orthologs with the estimated date of divergence from human lineage in million years ago (MYA), the accession number, and the % identity to human FAM234A. This list does not contain all of the known orthologs.

Selection of Organisms with FAM234A Orthologs
Common Name Divergence from Human Lineage (MYA) Accession Number Identity to Human (%)
Rhesus Monkey 28.1 NP_001253283.1 95
White-tufted-ear marmoset 42.6 XP_009007067.1 86
House mouse 88 NP_001344823.1 86
Chinese Hamster 88 XP_003501607.1 77
Upper Galilee mountains blind mole rat 88 XP_008849023.1 74
Golden Hamster 88 XP_005081607.1 76
Giant Panda 94 XP_011224429.1 73
Horse 94 XP_014585783.1 74
Beluga Whale 94 XP_022450014.1 73
Chicken 320 XP_414950.2 45
Blue Tit 320 XP_023792271.1 43
Bengalese Finch 320 XP_021404267.1 44
Central Bearded Dragon 320 XP_020667631.1 43
Australian saltwater crocodile 320 XP_019395600.1 47
Tropical Clawed Frog 353 NP_001121517.1 35
Zebrafish 432 XP_001336768.2 31
Barramundi Perch 432 XP_018520114.1 34
Japanese Medaka 432 XP_020567870.1 33
Elephant Shark 465 XP_007906598.1 37
Rat 88 NP_001009701.1 72

mRNA

There are at least 11 FAM234A isoforms. Aside from the longest transcript, the other isoforms differ by truncation, primarily at the 3' end. This results in a wide variation in sequence length between isoforms.

Protein

Predicted Structure of FAM234A[13]

The FAM234A gene encodes a serine and leucine rich protein titled the "FAM234A Protein" or ITFG3. The encoded protein is 552 amino acids in length with a predicted molecular weight of 59,660Da and a basal isoelectric point of 5.84.[14] The FAM234A protein has a notable hydrophobic region from position 49-70 in the amino acid sequence that correlates with one of the two trans-membrane regions found on FAM234A.[15] FAM234A has membrane topology type 3a, indicating multiple trans-membrane regions with it's N-terminus facing the cytosol. The protein is predicted to be located in the endoplasmic reticulum, with portions of it found within the endoplasmic reticulum lumen.[15] Within the cell, FAM234A has also been localized to the ribosomes and nucleus.[16]

Predicted Features of FAM234A Secondary Structure. Numbered according to amino acid in the FAM234A protein, areas where there is a predicted alpha-helix are highlighted in yellow.  Areas that are predicted to be beta-strands are highlighted in green.

Expression

Increased Expression of FAM234A in Thalamus, Pons, Myelencephalon, and Cerebellum[13]

FAM234A is expressed in tissues throughout the human body. However, there is notable elevation in expression in the duodenum, fat, small intestine, heart, and through the thalamus, pons, myelencephalon, and cerebellum. The regions of the brain with significant FAM234A expression are involved in relaying sensory information and the autonomic nervous system.

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000167930 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024187 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: ITFG3 integrin alpha FG-GAP repeat containing 3".
  6. ^ "FAM234A Symbol Report | HUGO Gene Nomenclature Committee". www.genenames.org. Retrieved 2018-02-20.
  7. ^ a b c "FAM234A family with sequence similarity 234 member A [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2018-02-20.
  8. ^ "NCBI GENE Ortholog Search".
  9. ^ "protein FAM234A [Homo sapiens] - Protein - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2018-02-20.
  10. ^ a b Database, GeneCards Human Gene. "FAM234A Gene - GeneCards | F234A Protein | F234A Antibody". www.genecards.org. Retrieved 2018-02-20.
  11. ^ Waye JS, Eng B, Hanna M, Hohenadel BA, Nakamura L, Walker L (May 2017). "α0-Thalassemia Due to a 90.7 kb Deletion (-/-NFLD)". Hemoglobin. 41 (3): 218–219. doi:10.1080/03630269.2017.1369987. PMID 28838269.
  12. ^ Chen Z, Tang H, Qayyum R, Schick UM, Nalls MA, Handsaker R, et al. (June 2013). "Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network". Human Molecular Genetics. 22 (12): 2529–38. doi:10.1093/hmg/ddt087. PMC 3658166. PMID 23446634.
  13. ^ a b "I-TASSER server for protein structure and function prediction". zhanglab.ccmb.med.umich.edu. Retrieved 2018-05-06.
  14. ^ "ITFG3 (human)". www.phosphosite.org. Retrieved 2018-05-06.
  15. ^ a b EMBL-EBI. "SAPS < Sequence Statistics < EMBL-EBI". www.ebi.ac.uk. Retrieved 2018-05-06.
  16. ^ "Cell atlas - FAM234A - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2018-05-06.

Further reading


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