Format

Send to:

Choose Destination

FAM172A family with sequence similarity 172 member A [ Homo sapiens (human) ]

Gene ID: 83989, updated on 12-Oct-2019

Summary

Official Symbol
FAM172Aprovided by HGNC
Official Full Name
family with sequence similarity 172 member Aprovided by HGNC
Primary source
HGNC:HGNC:25365
See related
Ensembl:ENSG00000113391
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Toupee; C5orf21
Expression
Ubiquitous expression in thyroid (RPKM 1.6), brain (RPKM 1.6) and 25 other tissues See more
Orthologs

Genomic context

See FAM172A in Genome Data Viewer
Location:
5q15
Exon count:
23
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (93615130..94111699, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (92953431..93447404, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene NR2F1 antisense RNA 1 Neighboring gene VISTA enhancer hs546 Neighboring gene nuclear receptor subfamily 2 group F member 1 Neighboring gene microRNA 2277 Neighboring gene nucleophosmin 1 pseudogene 27 Neighboring gene POU domain class 5, transcription factor 2 Neighboring gene VISTA enhancer hs271 Neighboring gene uncharacterized LOC105379087 Neighboring gene KIAA0825 Neighboring gene MT-ND5 pseudogene 12 Neighboring gene MT-CYB pseudogene 35 Neighboring gene MT-ND6 pseudogene 3

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of family with sequence similarity 172, member A (C5orf21; FAM172A) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp564D172

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to siRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
RNA splicing IEA
Inferred from Electronic Annotation
more info
 
chromatin silencing by small RNA IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mRNA processing IEA
Inferred from Electronic Annotation
more info
 
neural crest cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of alternative mRNA splicing, via spliceosome ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
cotranscriptional regulator FAM172A
Names
protein FAM172A

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.

mRNA and Protein(s)

  1. NM_001163417.1NP_001156889.1  cotranscriptional regulator FAM172A isoform 2

    See identical proteins and their annotated locations for NP_001156889.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon and uses a downstream start codon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK296986, BC012007, BC020584, BP398089, DC324758, W15296
    Consensus CDS
    CCDS54880.1
    UniProtKB/Swiss-Prot
    Q8WUF8
    Related
    ENSP00000423841.1, ENST00000509163.5
    Conserved Domains (1) summary
    pfam09757
    Location:32183
    Arb2; Arb2 domain
  2. NM_001163418.1NP_001156890.1  cotranscriptional regulator FAM172A isoform 3

    See identical proteins and their annotated locations for NP_001156890.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks two alternate exons and uses a downstream start codon, compared to variant 1. The resulting isoform (3) has a shorter N-terminus and lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AK295879, BC012007, BC020584, BP398089, DC324758, W15296
    Consensus CDS
    CCDS54879.1
    UniProtKB/Swiss-Prot
    Q8WUF8
    Related
    ENSP00000426284.1, ENST00000505869.5
    Conserved Domains (1) summary
    pfam09757
    Location:32119
    Arb2; Arb2 domain
  3. NM_032042.6NP_114431.2  cotranscriptional regulator FAM172A isoform 1 precursor

    See identical proteins and their annotated locations for NP_114431.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK312930, BC012007, BC020584, BP398089, DC324758, W15296
    Consensus CDS
    CCDS4069.1
    UniProtKB/Swiss-Prot
    Q8WUF8
    UniProtKB/TrEMBL
    A0A024RAL9
    Related
    ENSP00000379294.3, ENST00000395965.8
    Conserved Domains (1) summary
    pfam09757
    Location:78229
    Arb2; Arb2 domain

RNA

  1. NR_028080.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks two alternate exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK297471, BC012007, BC020584, BP398089, DC324758, DC374283, W15296

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    93615130..94111699 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005272108.3XP_005272165.1  cotranscriptional regulator FAM172A isoform X11

    See identical proteins and their annotated locations for XP_005272165.1

    Related
    ENSP00000424097.1, ENST00000502503.1
    Conserved Domains (1) summary
    pfam09757
    Location:11146
    Arb2; Arb2 domain
  2. XM_006714719.3XP_006714782.1  cotranscriptional regulator FAM172A isoform X11

    See identical proteins and their annotated locations for XP_006714782.1

    Conserved Domains (1) summary
    pfam09757
    Location:11146
    Arb2; Arb2 domain
  3. XM_017009960.1XP_016865449.1  cotranscriptional regulator FAM172A isoform X17

    UniProtKB/TrEMBL
    B4DMI0
    Related
    ENSP00000421834.1, ENST00000509739.5
    Conserved Domains (1) summary
    pfam09757
    Location:4382
    Arb2; Arb2 domain
  4. XM_005272105.4XP_005272162.1  cotranscriptional regulator FAM172A isoform X9

    Conserved Domains (1) summary
    pfam09757
    Location:78165
    Arb2; Arb2 domain
  5. XM_005272106.4XP_005272163.1  cotranscriptional regulator FAM172A isoform X10

    Conserved Domains (2) summary
    COG0596
    Location:147265
    MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
    pfam09757
    Location:78203
    Arb2; Arb2 domain
  6. XM_005272110.3XP_005272167.1  cotranscriptional regulator FAM172A isoform X14

    Conserved Domains (2) summary
    COG0596
    Location:101219
    MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
    pfam09757
    Location:32157
    Arb2; Arb2 domain
  7. XM_017009953.1XP_016865442.1  cotranscriptional regulator FAM172A isoform X2

    Conserved Domains (1) summary
    pfam09757
    Location:56207
    Arb2; Arb2 domain
  8. XM_017009956.1XP_016865445.1  cotranscriptional regulator FAM172A isoform X8

    UniProtKB/Swiss-Prot
    Q8WUF8
    Conserved Domains (1) summary
    pfam09757
    Location:32183
    Arb2; Arb2 domain
  9. XM_017009958.1XP_016865447.1  cotranscriptional regulator FAM172A isoform X11

    Conserved Domains (1) summary
    pfam09757
    Location:11146
    Arb2; Arb2 domain
  10. XM_011543673.2XP_011541975.1  cotranscriptional regulator FAM172A isoform X11

    See identical proteins and their annotated locations for XP_011541975.1

    Conserved Domains (1) summary
    pfam09757
    Location:11146
    Arb2; Arb2 domain
  11. XM_011543672.2XP_011541974.1  cotranscriptional regulator FAM172A isoform X8

    See identical proteins and their annotated locations for XP_011541974.1

    UniProtKB/Swiss-Prot
    Q8WUF8
    Conserved Domains (1) summary
    pfam09757
    Location:32183
    Arb2; Arb2 domain
  12. XM_017009952.1XP_016865441.1  cotranscriptional regulator FAM172A isoform X2

    Conserved Domains (1) summary
    pfam09757
    Location:56207
    Arb2; Arb2 domain
  13. XM_017009957.1XP_016865446.1  cotranscriptional regulator FAM172A isoform X11

    Conserved Domains (1) summary
    pfam09757
    Location:11146
    Arb2; Arb2 domain
  14. XM_006714718.3XP_006714781.1  cotranscriptional regulator FAM172A isoform X11

    See identical proteins and their annotated locations for XP_006714781.1

    Conserved Domains (1) summary
    pfam09757
    Location:11146
    Arb2; Arb2 domain
  15. XM_017009955.1XP_016865444.1  cotranscriptional regulator FAM172A isoform X8

    UniProtKB/Swiss-Prot
    Q8WUF8
    Conserved Domains (1) summary
    pfam09757
    Location:32183
    Arb2; Arb2 domain
  16. XM_006714717.3XP_006714780.1  cotranscriptional regulator FAM172A isoform X1

    See identical proteins and their annotated locations for XP_006714780.1

    UniProtKB/Swiss-Prot
    Q8WUF8
    UniProtKB/TrEMBL
    A0A024RAL9
    Conserved Domains (1) summary
    pfam09757
    Location:78229
    Arb2; Arb2 domain
  17. XM_011543671.3XP_011541973.1  cotranscriptional regulator FAM172A isoform X7

    Conserved Domains (1) summary
    pfam09757
    Location:78229
    Arb2; Arb2 domain
  18. XM_005272103.4XP_005272160.1  cotranscriptional regulator FAM172A isoform X4

    Conserved Domains (1) summary
    pfam09757
    Location:78229
    Arb2; Arb2 domain
  19. XM_017009954.2XP_016865443.1  cotranscriptional regulator FAM172A isoform X3

  20. XM_011543668.3XP_011541970.1  cotranscriptional regulator FAM172A isoform X5

    Conserved Domains (1) summary
    pfam09757
    Location:78229
    Arb2; Arb2 domain
  21. XM_011543670.3XP_011541972.1  cotranscriptional regulator FAM172A isoform X6

    Conserved Domains (1) summary
    pfam09757
    Location:78229
    Arb2; Arb2 domain
  22. XM_017009961.2XP_016865450.1  cotranscriptional regulator FAM172A isoform X18

  23. XM_005272109.5XP_005272166.1  cotranscriptional regulator FAM172A isoform X12

    See identical proteins and their annotated locations for XP_005272166.1

    Conserved Domains (1) summary
    pfam09757
    Location:78229
    Arb2; Arb2 domain
  24. XM_017009959.2XP_016865448.1  cotranscriptional regulator FAM172A isoform X16

  25. XM_011543674.3XP_011541976.1  cotranscriptional regulator FAM172A isoform X13

    Conserved Domains (1) summary
    pfam09757
    Location:78229
    Arb2; Arb2 domain
  26. XM_005272111.5XP_005272168.1  cotranscriptional regulator FAM172A isoform X15

    Conserved Domains (1) summary
    pfam09757
    Location:78229
    Arb2; Arb2 domain
  27. XM_017009962.1XP_016865451.1  cotranscriptional regulator FAM172A isoform X19

RNA

  1. XR_001742301.2 RNA Sequence

  2. XR_001742304.1 RNA Sequence

Support Center