SARNP SAP domain containing ribonucleoprotein [Homo sapiens (human)] - Gene

Summary

Official Symbol: SARNPprovided by HGNC
Official Full Name: SAP domain containing ribonucleoproteinprovided by HGNC
Primary source: HGNC:HGNC:24432
See related: Ensembl:ENSG00000205323 MIM:610049; AllianceGenome:HGNC:24432
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: HCC1; THO1; CIP29; HSPC316
Summary: This gene encodes a protein that is upregulated in response to various cytokines. The encoded protein may play a role in cell cycle progression. A translocation between this gene and the myeloid/lymphoid leukemia gene, resulting in expression of a chimeric protein, has been associated with acute myelomonocytic leukemia. Pseudogenes exist on chromosomes 7 and 8. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]
Expression: Ubiquitous expression in testis (RPKM 27.2), endometrium (RPKM 26.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.2

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (55752463..55817724, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (55719098..55784368, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (56146247..56211508, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Structural basis for high-order complex of SARNP and DDX39B to facilitate mRNP assembly.
Title: Structural basis for high-order complex of SARNP and DDX39B to facilitate mRNP assembly.
SARNP, a participant in mRNA splicing and export, negatively regulates E-cadherin expression via interaction with pinin.
Title: SARNP, a participant in mRNA splicing and export, negatively regulates E-cadherin expression via interaction with pinin.
Herein, the authors extend their previous research and provide evidence that ORF57 of human herpesvirus-8 interacts with CHTOP and CIP29, in contrast to POLDIP3.
Title: Interactions between KSHV ORF57 and the novel human TREX proteins, CHTOP and CIP29.
CIP29 physically and functionally associates with DDX39, suggesting their cooperation in the RNA metabolism.
Title: Intracellular characterization of DDX39, a novel growth-associated RNA helicase.
CIP29 appears to be a new cytokine regulated protein involved in normal and cancer cell proliferation.
Title: Cloning and characterization of a proliferation-associated cytokine-inducible protein, CIP29.
Hcc-1 plays a role in growth regulation and nucleic acids metabolism.
Title: Hcc-1 is a novel component of the nuclear matrix with growth inhibitory function.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	SAP domain containing ribonucleoprotein (SARNP) is identified to interact with HIV-1 Tat mutant Nullbasic in HeLa cells by LC MS/MS	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH44981 (e-PCR)
- UniSTS:14903

G32723 (e-PCR)
- UniSTS:117305

RH99137 (e-PCR)
- UniSTS:87392

STS-AA005408 (e-PCR)
- UniSTS:80747

STS-AA040347 (e-PCR)
- UniSTS:4986

A009P04 (e-PCR)
- UniSTS:27012

D12S1177E (e-PCR)
- UniSTS:73682

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA binding	HDA more info	PubMed
enables chromatin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in mRNA export from nucleus	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in poly(A)+ mRNA export from nucleus	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of translation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasmic ribonucleoprotein granule	IDA Inferred from Direct Assay more info
located_in nuclear speck	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed
part_of transcription export complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: SAP domain-containing ribonucleoprotein

Names: cytokine induced protein 29 kDa; cytokine-induced protein of 29 kDa; hepatocellular carcinoma 1; nuclear protein Hcc-1; proliferation associated cytokine-inducible protein CIP29

NCBI Reference Sequences (RefSeq)

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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)

NM_033082.4 → NP_149073.1 SAP domain-containing ribonucleoprotein

See identical proteins and their annotated locations for NP_149073.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shortest transcript and encodes the functional protein.

Source sequence(s)

AF161434, BC007099, BI520421

Consensus CDS

CCDS8892.1

UniProtKB/Swiss-Prot

A8K393, P82979, Q9P066

UniProtKB/TrEMBL

F8VZQ9

Related

ENSP00000337632.3, ENST00000336133.8

Conserved Domains (2) summary

smart00513
Location:8 → 42

SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation

PLN03124
Location:7 → 90

PLN03124; poly [ADP-ribose] polymerase; Provisional

RNA

NR_026722.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an internal exon and differs in the 3' region 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)

AK290508, BC093051, BI520421

Related

ENST00000552884.5
NR_026723.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' region 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)

AK290508, BI520421