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FAM207A family with sequence similarity 207 member A [ Homo sapiens (human) ]

Gene ID: 85395, updated on 7-Jun-2020

Summary

Official Symbol
FAM207Aprovided by HGNC
Official Full Name
family with sequence similarity 207 member Aprovided by HGNC
Primary source
HGNC:HGNC:15811
See related
Ensembl:ENSG00000160256
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
PRED56; C21orf70
Expression
Ubiquitous expression in testis (RPKM 3.9), spleen (RPKM 3.7) and 25 other tissues See more
Orthologs

Genomic context

See FAM207A in Genome Data Viewer
Location:
21q22.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (44939697..44976989)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (46359918..46396891)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene integrin subunit beta 2 Neighboring gene ITGB2 antisense RNA 1 Neighboring gene uncharacterized LOC112268278 Neighboring gene long intergenic non-protein coding RNA 1547 Neighboring gene uncharacterized LOC107985497 Neighboring gene FAM207A intron CAGE-defined mid-level expression enhancer Neighboring gene long intergenic non-protein coding RNA 163 Neighboring gene P38 inhibited cutaneous squamous cell carcinoma associated lincRNA

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
90S preribosome IEA
Inferred from Electronic Annotation
more info
 
nucleolus IEA
Inferred from Electronic Annotation
more info
 
preribosome, small subunit precursor IEA
Inferred from Electronic Annotation
more info
 

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_001316983.1NP_001303912.1  protein FAM207A isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is 1 aa shorter compared to isoform 1.
    Source sequence(s)
    AA037661, BC009341, CN368049, HY097926
    UniProtKB/Swiss-Prot
    Q9NSI2
    Conserved Domains (1) summary
    pfam15341
    Location:99220
    SLX9; Ribosome biogenesis protein SLX9
  2. NM_001316984.1NP_001303913.1  protein FAM207A isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AA037661, AF391114, BC009341, HY097926
    Consensus CDS
    CCDS82682.1
    UniProtKB/Swiss-Prot
    Q9NSI2
    Related
    ENSP00000380926.3, ENST00000397826.7
    Conserved Domains (1) summary
    pfam15341
    Location:84206
    SLX9; Ribosome biogenesis protein SLX9
  3. NM_001316985.1NP_001303914.1  protein FAM207A isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses two alternate in-frame splice junctions compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AA037661, AL844908, AP001505, BC009341, BM042090, HY097926
    UniProtKB/Swiss-Prot
    Q9NSI2
    Conserved Domains (1) summary
    pfam15341
    Location:84205
    SLX9; Ribosome biogenesis protein SLX9
  4. NM_001316986.1NP_001303915.1  protein FAM207A isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks an alternate in-frame exon in the 3' end compared to variant 1. The resulting isoform (5) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AA037661, AL844908, BC009341, BG479572, HY097926
    UniProtKB/Swiss-Prot
    Q9NSI2
    Conserved Domains (1) summary
    pfam15341
    Location:99198
    SLX9; Ribosome biogenesis protein SLX9
  5. NM_001316987.1NP_001303916.1  protein FAM207A isoform 6

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) uses an alternate in-frame splice junction in the 5' end and lacks an alternate in-frame exon in the 3' end compared to variant 1. The resulting isoform (6) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AA037661, CR998572, HY097926
    Conserved Domains (1) summary
    pfam15341
    Location:84183
    SLX9; Ribosome biogenesis protein SLX9
  6. NM_001316988.1NP_001303917.1  protein FAM207A isoform 7

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) uses an alternate first exon, an alternate splice junction in the 5' end, and an alternate in-frame splice junction in the 3' end compared to variant 1. The resulting isoform (7) is shorter at the N-terminus and lacks a single internal aa compared to isoform 1.
    Source sequence(s)
    AA037661, AL844908, BC009341, BG744869
    UniProtKB/Swiss-Prot
    Q9NSI2
    Conserved Domains (1) summary
    pfam15341
    Location:1113
    SLX9; Ribosome biogenesis protein SLX9
  7. NM_058190.4NP_478070.1  protein FAM207A isoform 1

    See identical proteins and their annotated locations for NP_478070.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    BC009341, HY097926
    Consensus CDS
    CCDS13718.1
    UniProtKB/Swiss-Prot
    Q9NSI2
    Related
    ENSP00000291634.6, ENST00000291634.11
    Conserved Domains (1) summary
    pfam15341
    Location:99221
    SLX9; Ribosome biogenesis protein SLX9

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

    Range
    44939697..44976989
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028481.2XP_016883970.1  protein FAM207A isoform X1

    Conserved Domains (1) summary
    pfam15341
    Location:1114
    SLX9; Ribosome biogenesis protein SLX9
  2. XM_017028482.2XP_016883971.1  protein FAM207A isoform X1

    Conserved Domains (1) summary
    pfam15341
    Location:1114
    SLX9; Ribosome biogenesis protein SLX9
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