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FAM3A family with sequence similarity 3 member A [ Homo sapiens (human) ]

Gene ID: 60343, updated on 12-Aug-2018

Summary

Official Symbol
FAM3Aprovided by HGNC
Official Full Name
family with sequence similarity 3 member Aprovided by HGNC
Primary source
HGNC:HGNC:13749
See related
Ensembl:ENSG00000071889 MIM:300492; Vega:OTTHUMG00000013418
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DLD; 2.19; XAP-7; DXS560S
Summary
This gene encodes a cytokine-like protein. The expression of this gene may be regulated by peroxisome proliferator-activated receptor gamma, and the encoded protein may be involved in the regulation of glucose and lipid metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Expression
Ubiquitous expression in small intestine (RPKM 12.0), fat (RPKM 11.4) and 25 other tissues See more
Orthologs

Genomic context

See FAM3A in Genome Data Viewer
Location:
Xq28
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (154506159..154516257, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153733323..153744572, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 10 member 3 Neighboring gene RNA, 7SL, cytoplasmic 697, pseudogene Neighboring gene glucose-6-phosphate dehydrogenase Neighboring gene G6PD and IKBKG intron CAGE-defined low expression enhancer Neighboring gene origin of replication in promoter of G6PD Neighboring gene inhibitor of nuclear factor kappa B kinase subunit gamma

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein FAM3A
Names
cytokine-like protein 2-19

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016401.2 RefSeqGene

    Range
    5111..15194
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001171132.2NP_001164603.1  protein FAM3A isoform 1 precursor

    See identical proteins and their annotated locations for NP_001164603.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 6 encode the same isoform (1).
    Source sequence(s)
    AL539139, AW612420, BC008912, BM457676, X87193
    Consensus CDS
    CCDS35453.1
    UniProtKB/Swiss-Prot
    P98173
    Related
    ENSP00000352955.5, OTTHUMP00000015418, ENST00000359889.9, OTTHUMT00000037359
    Conserved Domains (1) summary
    cd13940
    Location:55224
    ILEI_FAM3C; Interleukin-like EMT inducer
  2. NM_001171133.2NP_001164604.1  protein FAM3A isoform 2

    See identical proteins and their annotated locations for NP_001164604.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AL539139, AW612420, BC008912, BM457676, X87193
    Consensus CDS
    CCDS55542.1
    UniProtKB/Swiss-Prot
    P98173
    Related
    ENSP00000377202.1, OTTHUMP00000196191, ENST00000393572.5, OTTHUMT00000316170
    Conserved Domains (1) summary
    cd13940
    Location:17186
    ILEI_FAM3C; Interleukin-like EMT inducer
  3. NM_001171134.2NP_001164605.1  protein FAM3A isoform 3

    See identical proteins and their annotated locations for NP_001164605.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AK314682, AL539139, AW612420, BM457676, X87193
    Consensus CDS
    CCDS55543.1
    UniProtKB/Swiss-Prot
    P98173
    Related
    ENSP00000393086.2, ENST00000419205.5
    Conserved Domains (1) summary
    cd13940
    Location:55207
    ILEI_FAM3C; Interleukin-like EMT inducer
  4. NM_001282311.1NP_001269240.1  protein FAM3A isoform 4

    See identical proteins and their annotated locations for NP_001269240.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an alternate exon in its 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4) has a longer and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AL539139, AW612420, BC002934, BM457676, X87193
    Consensus CDS
    CCDS76060.1
    UniProtKB/Swiss-Prot
    P98173
    UniProtKB/TrEMBL
    D3DWX8, Q9BU27
    Conserved Domains (1) summary
    cd13940
    Location:69238
    ILEI_FAM3C; Interleukin-like EMT inducer
  5. NM_001282312.1NP_001269241.1  protein FAM3A isoform 1 precursor

    See identical proteins and their annotated locations for NP_001269241.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 6 encode the same isoform (1).
    Source sequence(s)
    AL539139, AW612420, BC008912, BM457676, X87193
    Consensus CDS
    CCDS35453.1
    UniProtKB/Swiss-Prot
    P98173
    Related
    ENSP00000358657.1, OTTHUMP00000015419, ENST00000369643.5, OTTHUMT00000037361
    Conserved Domains (1) summary
    cd13940
    Location:55224
    ILEI_FAM3C; Interleukin-like EMT inducer
  6. NM_001363822.1NP_001350751.1  protein FAM3A isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC244090
    Consensus CDS
    CCDS87800.1
    Conserved Domains (1) summary
    cd13940
    Location:55231
    ILEI_FAM3C; Interleukin-like EMT inducer
  7. NM_021806.3NP_068578.2  protein FAM3A isoform 1 precursor

    See identical proteins and their annotated locations for NP_068578.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform (1). Variants 1, 2 and 6 encode the same isoform (1).
    Source sequence(s)
    AK314682, AL539139, AW612420, BM457676, X87193
    Consensus CDS
    CCDS35453.1
    UniProtKB/Swiss-Prot
    P98173
    Related
    ENSP00000416146.2, OTTHUMP00000015420, ENST00000447601.6, OTTHUMT00000037362
    Conserved Domains (1) summary
    cd13940
    Location:55224
    ILEI_FAM3C; Interleukin-like EMT inducer

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    154506159..154516257 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005277879.4XP_005277936.1  protein FAM3A isoform X7

    See identical proteins and their annotated locations for XP_005277936.1

    UniProtKB/Swiss-Prot
    P98173
    Conserved Domains (1) summary
    cd13940
    Location:55207
    ILEI_FAM3C; Interleukin-like EMT inducer
  2. XM_024452417.1XP_024308185.1  protein FAM3A isoform X5

    Related
    ENSP00000358655.3, ENST00000369641.7
    Conserved Domains (1) summary
    cd13940
    Location:55231
    ILEI_FAM3C; Interleukin-like EMT inducer
  3. XM_006724832.3XP_006724895.1  protein FAM3A isoform X4

    See identical proteins and their annotated locations for XP_006724895.1

    Related
    OTTHUMP00000015422, OTTHUMT00000037370
    Conserved Domains (1) summary
    cd13940
    Location:55232
    ILEI_FAM3C; Interleukin-like EMT inducer
  4. XM_017029701.1XP_016885190.1  protein FAM3A isoform X8

    Conserved Domains (1) summary
    cd13940
    Location:14183
    ILEI_FAM3C; Interleukin-like EMT inducer
  5. XM_006724833.2XP_006724896.1  protein FAM3A isoform X6

    See identical proteins and their annotated locations for XP_006724896.1

    Conserved Domains (1) summary
    cd13940
    Location:69221
    ILEI_FAM3C; Interleukin-like EMT inducer
  6. XM_005274716.3XP_005274773.1  protein FAM3A isoform X3

    See identical proteins and their annotated locations for XP_005274773.1

    UniProtKB/TrEMBL
    D3DWX8
    Related
    ENSP00000320521.7, ENST00000322269.10
    Conserved Domains (1) summary
    cd13940
    Location:69238
    ILEI_FAM3C; Interleukin-like EMT inducer
  7. XM_024452418.1XP_024308186.1  protein FAM3A isoform X6

    Conserved Domains (1) summary
    cd13940
    Location:69221
    ILEI_FAM3C; Interleukin-like EMT inducer
  8. XM_024452416.1XP_024308184.1  protein FAM3A isoform X2

    Conserved Domains (1) summary
    cd13940
    Location:69245
    ILEI_FAM3C; Interleukin-like EMT inducer
  9. XM_024452415.1XP_024308183.1  protein FAM3A isoform X1

    Conserved Domains (1) summary
    cd13940
    Location:69246
    ILEI_FAM3C; Interleukin-like EMT inducer
  10. XM_024452419.1XP_024308187.1  protein FAM3A isoform X8

    Conserved Domains (1) summary
    cd13940
    Location:14183
    ILEI_FAM3C; Interleukin-like EMT inducer
  11. XM_017029700.2XP_016885189.1  protein FAM3A isoform X8

    Conserved Domains (1) summary
    cd13940
    Location:14183
    ILEI_FAM3C; Interleukin-like EMT inducer
  12. XM_024452420.1XP_024308188.1  protein FAM3A isoform X8

    Conserved Domains (1) summary
    cd13940
    Location:14183
    ILEI_FAM3C; Interleukin-like EMT inducer
  13. XM_017029702.1XP_016885191.1  protein FAM3A isoform X8

    Conserved Domains (1) summary
    cd13940
    Location:14183
    ILEI_FAM3C; Interleukin-like EMT inducer

RNA

  1. XR_002958801.1 RNA Sequence

  2. XR_002958799.1 RNA Sequence

  3. XR_002958798.1 RNA Sequence

  4. XR_002958800.1 RNA Sequence

  5. XR_002958802.1 RNA Sequence

  6. XR_002958803.1 RNA Sequence

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