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RASSF8 Ras association domain family member 8 [ Homo sapiens (human) ]

Gene ID: 11228, updated on 10-Dec-2019

Summary

Official Symbol
RASSF8provided by HGNC
Official Full Name
Ras association domain family member 8provided by HGNC
Primary source
HGNC:HGNC:13232
See related
Ensembl:ENSG00000123094 MIM:608231
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
HOJ1; C12orf2
Summary
This gene encodes a member of the Ras-assocation domain family (RASSF) of tumor suppressor proteins. This gene is essential for maintaining adherens junction function in epithelial cells and has a role in epithelial cell migration. It is a lung tumor suppressor gene candidate. A chromosomal translocation t(12;22)(p11.2;q13.3) leading to the fusion of this gene and the FBLN1 gene is found in a complex type of synpolydactyly. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
Expression
Broad expression in testis (RPKM 13.9), endometrium (RPKM 13.0) and 23 other tissues See more
Orthologs

Genomic context

See RASSF8 in Genome Data Viewer
Location:
12p12.1
Exon count:
11
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (25958232..26079889)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (26111964..26232825)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene thymine-DNA glycosylase pseudogene 1 Neighboring gene microRNA 4302 Neighboring gene RASSF8 antisense RNA 1 Neighboring gene uncharacterized LOC107984501 Neighboring gene basic helix-loop-helix family member e41 Neighboring gene sarcospan Neighboring gene uncharacterized LOC101928554

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11542, DKFZp434O0227

Gene Ontology Provided by GOA

Process Evidence Code Pubs
adherens junction maintenance IEA
Inferred from Electronic Annotation
more info
 
signal transduction IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
ras association domain-containing protein 8
Names
Ras association (RalGDS/AF-6) domain family (N-terminal) member 8
carcinoma-associated protein HOJ-1

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_029077.1 RefSeqGene

    Range
    4652..125859
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001164746.2NP_001158218.1  ras association domain-containing protein 8 isoform a

    See identical proteins and their annotated locations for NP_001158218.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1, 2 and 3 encode the same isoform.
    Source sequence(s)
    AC055707, AK292333, AY665468, BE440096, DB055998
    Consensus CDS
    CCDS53765.1
    UniProtKB/Swiss-Prot
    Q8NHQ8
    UniProtKB/TrEMBL
    A0A024RB12, A8K8G8
    Related
    ENSP00000282884.9, ENST00000282884.13
    Conserved Domains (2) summary
    COG1196
    Location:160351
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd16134
    Location:283
    RA_RASSF8; Ras-associating (RA) domain found in N-terminal Ras-association domain family 8 (RASSF8)
  2. NM_001164747.2NP_001158219.1  ras association domain-containing protein 8 isoform a

    See identical proteins and their annotated locations for NP_001158219.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (a).
    Source sequence(s)
    AC055707, AK290055, AY665468, BE440096
    Consensus CDS
    CCDS53765.1
    UniProtKB/Swiss-Prot
    Q8NHQ8
    UniProtKB/TrEMBL
    A0A024RB12
    Related
    ENSP00000439839.1, ENST00000542865.5
    Conserved Domains (2) summary
    COG1196
    Location:160351
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd16134
    Location:283
    RA_RASSF8; Ras-associating (RA) domain found in N-terminal Ras-association domain family 8 (RASSF8)
  3. NM_001164748.2NP_001158220.1  ras association domain-containing protein 8 isoform a

    See identical proteins and their annotated locations for NP_001158220.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (a).
    Source sequence(s)
    AB093206, AC055707, BE440096, DB044325
    Consensus CDS
    CCDS53765.1
    UniProtKB/Swiss-Prot
    Q8NHQ8
    UniProtKB/TrEMBL
    A0A024RB12
    Related
    ENSP00000384491.1, ENST00000405154.6
    Conserved Domains (2) summary
    COG1196
    Location:160351
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd16134
    Location:283
    RA_RASSF8; Ras-associating (RA) domain found in N-terminal Ras-association domain family 8 (RASSF8)
  4. NM_007211.5NP_009142.2  ras association domain-containing protein 8 isoform b

    See identical proteins and their annotated locations for NP_009142.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in both UTRs and in the 3' coding region, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    AC055707, BC030021
    Consensus CDS
    CCDS8705.1
    UniProtKB/Swiss-Prot
    Q8NHQ8
    Related
    ENSP00000370756.3, ENST00000381352.7
    Conserved Domains (2) summary
    smart00314
    Location:181
    RA; Ras association (RalGDS/AF-6) domain
    cl25732
    Location:160351
    SMC_N; RecF/RecN/SMC N terminal domain

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_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    25958232..26079889
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448819.1XP_024304587.1  ras association domain-containing protein 8 isoform X1

    Conserved Domains (2) summary
    COG1196
    Location:160351
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd16134
    Location:283
    RA_RASSF8; Ras-associating (RA) domain found in N-terminal Ras-association domain family 8 (RASSF8)
  2. XM_024448818.1XP_024304586.1  ras association domain-containing protein 8 isoform X1

    Conserved Domains (2) summary
    COG1196
    Location:160351
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd16134
    Location:283
    RA_RASSF8; Ras-associating (RA) domain found in N-terminal Ras-association domain family 8 (RASSF8)
  3. XM_024448822.1XP_024304590.1  ras association domain-containing protein 8 isoform X1

    Related
    ENSP00000443096.1, ENST00000541490.5
    Conserved Domains (2) summary
    COG1196
    Location:160351
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd16134
    Location:283
    RA_RASSF8; Ras-associating (RA) domain found in N-terminal Ras-association domain family 8 (RASSF8)
  4. XM_017018746.2XP_016874235.1  ras association domain-containing protein 8 isoform X1

    UniProtKB/Swiss-Prot
    Q8NHQ8
    UniProtKB/TrEMBL
    A0A024RB12
    Conserved Domains (2) summary
    COG1196
    Location:160351
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd16134
    Location:283
    RA_RASSF8; Ras-associating (RA) domain found in N-terminal Ras-association domain family 8 (RASSF8)
  5. XM_024448821.1XP_024304589.1  ras association domain-containing protein 8 isoform X1

    Conserved Domains (2) summary
    COG1196
    Location:160351
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd16134
    Location:283
    RA_RASSF8; Ras-associating (RA) domain found in N-terminal Ras-association domain family 8 (RASSF8)
  6. XM_006719028.1XP_006719091.1  ras association domain-containing protein 8 isoform X1

    See identical proteins and their annotated locations for XP_006719091.1

    UniProtKB/Swiss-Prot
    Q8NHQ8
    UniProtKB/TrEMBL
    A0A024RB12
    Conserved Domains (2) summary
    COG1196
    Location:160351
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd16134
    Location:283
    RA_RASSF8; Ras-associating (RA) domain found in N-terminal Ras-association domain family 8 (RASSF8)
  7. XM_006719027.2XP_006719090.1  ras association domain-containing protein 8 isoform X1

    See identical proteins and their annotated locations for XP_006719090.1

    UniProtKB/Swiss-Prot
    Q8NHQ8
    UniProtKB/TrEMBL
    A0A024RB12
    Conserved Domains (2) summary
    COG1196
    Location:160351
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd16134
    Location:283
    RA_RASSF8; Ras-associating (RA) domain found in N-terminal Ras-association domain family 8 (RASSF8)
  8. XM_024448820.1XP_024304588.1  ras association domain-containing protein 8 isoform X1

    Conserved Domains (2) summary
    COG1196
    Location:160351
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd16134
    Location:283
    RA_RASSF8; Ras-associating (RA) domain found in N-terminal Ras-association domain family 8 (RASSF8)
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