This gene encodes a protein that interacts with the Rab2B small GTPase and may be important for integrity of the Golgi body. A knockdown of this gene induces fragmentation of the Golgi, similar to the effect seen with a knockdown of the Rab2B small GTPase. The encoded protein has an N-terminal Rab-binding domain specific for Rab2B. [provided by RefSeq, Feb 2017] See more...

Aliases for FAM71A Gene

Aliases for FAM71A Gene

  • Family With Sequence Similarity 71 Member A 2 3 5
  • Protein FAM71A 3 4
  • Testis Secretory Sperm-Binding Protein Li 209a 3
  • Family With Sequence Similarity 71, Member A 2
  • Golgi-Associated Rab2B Interactor-Like 4 3
  • FLJ32796 2
  • GARI-L4 3
  • FAM71A 5

External Ids for FAM71A Gene

Previous GeneCards Identifiers for FAM71A Gene

  • GC01P209187
  • GC01P210865
  • GC01P212798
  • GC01P183474

Summaries for FAM71A Gene

Entrez Gene Summary for FAM71A Gene

  • This gene encodes a protein that interacts with the Rab2B small GTPase and may be important for integrity of the Golgi body. A knockdown of this gene induces fragmentation of the Golgi, similar to the effect seen with a knockdown of the Rab2B small GTPase. The encoded protein has an N-terminal Rab-binding domain specific for Rab2B. [provided by RefSeq, Feb 2017]

GeneCards Summary for FAM71A Gene

FAM71A (Family With Sequence Similarity 71 Member A) is a Protein Coding gene. Diseases associated with FAM71A include Cortical Dysplasia, Complex, With Other Brain Malformations 1 and Complex Cortical Dysplasia With Other Brain Malformations. An important paralog of this gene is FAM71B.

Additional gene information for FAM71A Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM71A Gene

Genomics for FAM71A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FAM71A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM71A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM71A

Top Transcription factor binding sites by QIAGEN in the FAM71A gene promoter:
  • AhR
  • C/EBPalpha
  • CREB
  • CUTL1
  • deltaCREB
  • E4BP4
  • Pax-2

Genomic Locations for FAM71A Gene

Genomic Locations for FAM71A Gene
chr1:212,624,474-212,626,775
(GRCh38/hg38)
Size:
2,302 bases
Orientation:
Plus strand
chr1:212,797,789-212,800,120
(GRCh37/hg19)
Size:
2,332 bases
Orientation:
Plus strand

Genomic View for FAM71A Gene

Genes around FAM71A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM71A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM71A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM71A Gene

Proteins for FAM71A Gene

  • Protein details for FAM71A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IYT1-FA71A_HUMAN
    Recommended name:
    Protein FAM71A
    Protein Accession:
    Q8IYT1
    Secondary Accessions:
    • Q5VTZ1

    Protein attributes for FAM71A Gene

    Size:
    594 amino acids
    Molecular mass:
    63177 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FAM71A Gene

Post-translational modifications for FAM71A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAM71A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FAM71A Gene

Domains & Families for FAM71A Gene

Gene Families for FAM71A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM71A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM71A Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM71A (FA71A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IYT1

UniProtKB/Swiss-Prot:

FA71A_HUMAN :
  • Belongs to the FAM71 family.
Family:
  • Belongs to the FAM71 family.
genes like me logo Genes that share domains with FAM71A: view

Function for FAM71A Gene

Phenotypes From GWAS Catalog for FAM71A Gene

genes like me logo Genes that share phenotypes with FAM71A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM71A

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for FAM71A Gene

Localization for FAM71A Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FAM71A gene
Compartment Confidence
nucleus 5
cytosol 1

Gene Ontology (GO) - Cellular Components for FAM71A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
genes like me logo Genes that share ontologies with FAM71A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for FAM71A Gene

Pathways & Interactions for FAM71A Gene

PathCards logo

SuperPathways for FAM71A Gene

No Data Available

Interacting Proteins for FAM71A Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: Q8IYT1-FA71A_HUMAN ENSP00000294829 for FAM71A Gene via UniProtKB STRING

Gene Ontology (GO) - Biological Process for FAM71A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM71A Gene

Drugs & Compounds for FAM71A Gene

No Compound Related Data Available

Transcripts for FAM71A Gene

mRNA/cDNA for FAM71A Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM71A

Alternative Splicing Database (ASD) splice patterns (SP) for FAM71A Gene

No ASD Table

Relevant External Links for FAM71A Gene

GeneLoc Exon Structure for
FAM71A

Expression for FAM71A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAM71A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

mRNA differential expression in normal tissues according to GTEx for FAM71A Gene

This gene is overexpressed in Testis (x49.4).

Protein differential expression in normal tissues from HIPED for FAM71A Gene

This gene is overexpressed in Testis (56.7) and Ovary (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAM71A Gene



Protein tissue co-expression partners for FAM71A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM71A

SOURCE GeneReport for Unigene cluster for FAM71A Gene:

Hs.129293
genes like me logo Genes that share expression patterns with FAM71A: view

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM71A Gene

Orthologs for FAM71A Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM71A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FAM71A 30 31
  • 98.32 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FAM71A 30 31
  • 77.56 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FAM71A 30 31
  • 69.24 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fam71a 30 17 31
  • 68.82 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fam71a 30
  • 68.47 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 68 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 63 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 50 (a)
ManyToMany
-- 31
  • 44 (a)
ManyToMany
Species where no ortholog for FAM71A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for FAM71A Gene

ENSEMBL:
Gene Tree for FAM71A (if available)
TreeFam:
Gene Tree for FAM71A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAM71A: view image

Paralogs for FAM71A Gene

(2) SIMAP similar genes for FAM71A Gene using alignment to 2 proteins:

  • FA71A_HUMAN
  • L8ECN6_HUMAN

Pseudogenes.org Pseudogenes for FAM71A Gene

genes like me logo Genes that share paralogs with FAM71A: view

Variants for FAM71A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM71A Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
710838 Likely Benign: not provided 212,626,540(+) A/T NONSENSE
767746 Benign: not provided 212,625,750(+) C/G SYNONYMOUS_VARIANT
767747 Benign: not provided 212,625,948(+) C/T SYNONYMOUS_VARIANT
rs767737768 Likely Benign: Oromandibular-limb hypogenesis spectrum 212,626,342(+) T/C MISSENSE_VARIANT
rs886037883 Likely Benign: Oromandibular-limb hypogenesis spectrum 212,626,352(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for FAM71A Gene

Structural Variations from Database of Genomic Variants (DGV) for FAM71A Gene

Variant ID Type Subtype PubMed ID
esv2758996 CNV loss 17122850
nsv549139 CNV gain 21841781

Variation tolerance for FAM71A Gene

Residual Variation Intolerance Score: 90.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.08; 90.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM71A Gene

Human Gene Mutation Database (HGMD)
FAM71A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM71A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM71A Gene

Disorders for FAM71A Gene

MalaCards: The human disease database

(2) MalaCards diseases for FAM71A Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with FAM71A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM71A Gene

Publications for FAM71A Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Small GTPase Rab2B and Its Specific Binding Protein Golgi-associated Rab2B Interactor-like 4 (GARI-L4) Regulate Golgi Morphology. (PMID: 26209634) Aizawa M … Fukuda M (The Journal of biological chemistry 2015) 3

Products for FAM71A Gene

Sources for FAM71A Gene