SRSF12 serine and arginine rich splicing factor 12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SRSF12provided by HGNC
Official Full Name: serine and arginine rich splicing factor 12provided by HGNC
Primary source: HGNC:HGNC:21220
See related: Ensembl:ENSG00000154548 AllianceGenome:HGNC:21220
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: SFRS19; SRrp35; SFRS13B
Summary: Enables RNA binding activity. Involved in mRNA 5'-splice site recognition and regulation of alternative mRNA splicing, via spliceosome. Predicted to be located in nucleoplasm. Predicted to be active in nuclear speck. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in testis (RPKM 7.8), brain (RPKM 2.4) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q15

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (89095959..89118071, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (90304618..90326713, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (89805678..89827790, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA binding	NAS Non-traceable Author Statement more info	PubMed
enables RS domain binding	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables unfolded protein binding	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in mRNA 5'-splice site recognition	IDA Inferred from Direct Assay more info	PubMed
involved_in mRNA splicing, via spliceosome	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of mRNA splicing, via spliceosome	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in regulation of alternative mRNA splicing, via spliceosome	IDA Inferred from Direct Assay more info	PubMed
involved_in spliceosomal tri-snRNP complex assembly	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in nuclear speck	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info

General protein information

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Preferred Names: serine/arginine-rich splicing factor 12

Names: 35 kDa SR repressor protein; SR splicing factor 12; serine-arginine repressor protein (35 kDa); splicing factor, arginine/serine-rich 13B; splicing factor, arginine/serine-rich 19

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_001376896.1 → NP_001363825.1 serine/arginine-rich splicing factor 12 isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (2), as well as variants 3 and 4, encodes isoform b.

Source sequence(s)

AL353135

UniProtKB/TrEMBL

B3KVR7
NM_001376897.1 → NP_001363826.1 serine/arginine-rich splicing factor 12 isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (3), as well as variants 2 and 4, encodes isoform b.

Source sequence(s)

AL353135

UniProtKB/TrEMBL

B3KVR7
NM_001376898.1 → NP_001363827.1 serine/arginine-rich splicing factor 12 isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (4), as well as variants 2 and 3, encodes isoform b.

Source sequence(s)

AL353135

UniProtKB/TrEMBL

B3KVR7
NM_080743.5 → NP_542781.3 serine/arginine-rich splicing factor 12 isoform a

See identical proteins and their annotated locations for NP_542781.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a).

Source sequence(s)

AA889416, AF449428, AL353135, BC021715, BP244338

Consensus CDS

CCDS47459.1

UniProtKB/Swiss-Prot

B2RA22, Q5T7K0, Q8WW25, Q8WXF0

Related

ENSP00000414302.2, ENST00000452027.3

Conserved Domains (2) summary

TIGR01628
Location:12 → 211

PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family

cd12312
Location:10 → 93

RRM_SRSF10_SRSF12; RNA recognition motif (RRM) found in serine/arginine-rich splicing factor SRSF10, SRSF12 and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

89095959..89118071 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047418223.1 → XP_047274179.1 serine/arginine-rich splicing factor 12 isoform X2

UniProtKB/TrEMBL

B3KVR7
XM_011535483.3 → XP_011533785.1 serine/arginine-rich splicing factor 12 isoform X1

Conserved Domains (2) summary

COG0724
Location:9 → 77

RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

cd12312
Location:8 → 78

RRM_SRSF10_SRSF12; RNA recognition motif in serine/arginine-rich splicing factor SRSF10, SRSF12 and similar proteins
XM_047418224.1 → XP_047274180.1 serine/arginine-rich splicing factor 12 isoform X2

UniProtKB/TrEMBL

B3KVR7

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

90304618..90326713 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054354313.1 → XP_054210288.1 serine/arginine-rich splicing factor 12 isoform X2

UniProtKB/TrEMBL

B3KVR7
XM_054354312.1 → XP_054210287.1 serine/arginine-rich splicing factor 12 isoform X1
XM_054354314.1 → XP_054210289.1 serine/arginine-rich splicing factor 12 isoform X2

UniProtKB/TrEMBL

B3KVR7
XM_054354315.1 → XP_054210290.1 serine/arginine-rich splicing factor 12 isoform X2

UniProtKB/TrEMBL

B3KVR7