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ITFG3

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

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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

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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

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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.

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.[13] 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.[14] FAM234A has membrane topology type 3a, indicating multiple trans-membrane regions with its 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.[14] Within the cell, FAM234A has also been localized to the ribosomes and nucleus.[15]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000167930Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024187Ensembl, 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. Archived from the original on 2018-02-20. 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. S2CID 205563358.
  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. ^ "ITFG3 (human)". www.phosphosite.org. Retrieved 2018-05-06.
  14. ^ a b EMBL-EBI. "SAPS < Sequence Statistics < EMBL-EBI". www.ebi.ac.uk. Retrieved 2018-05-06.
  15. ^ "Cell atlas - FAM234A - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2018-05-06.

Further reading

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