SURF4 surfeit 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SURF4provided by HGNC
Official Full Name: surfeit 4provided by HGNC
Primary source: HGNC:HGNC:11476
See related: Ensembl:ENSG00000148248 MIM:185660; AllianceGenome:HGNC:11476
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: ERV29
Summary: This gene is located in the surfeit gene cluster, which is comprised of very tightly linked housekeeping genes that do not share sequence similarity. The encoded protein is a conserved integral membrane protein that interacts with endoplasmic reticulum-Golgi intermediate compartment proteins. Disruption of this gene results in reduced numbers of endoplasmic reticulum-Golgi intermediate compartment clusters and redistribution of coat protein I to the cytosol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Expression: Ubiquitous expression in duodenum (RPKM 40.0), small intestine (RPKM 39.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (133361464..133377949, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (145575418..145591909, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (136228340..136244820, complement)

Chromosome 9 - NC_000009.12 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?

Surf4, cargo trafficking, lipid metabolism, and therapeutic implications.
Title: Surf4, cargo trafficking, lipid metabolism, and therapeutic implications.
Export of polybasic motif-containing secretory proteins BMP8A and SFRP1 from the endoplasmic reticulum is regulated by surfeit locus protein 4.
Title: Export of polybasic motif-containing secretory proteins BMP8A and SFRP1 from the endoplasmic reticulum is regulated by surfeit locus protein 4.
High SURF4 expression is associated with poor prognosis of breast cancer.
Title: High SURF4 expression is associated with poor prognosis of breast cancer.
Selective inhibition of protein secretion by abrogating receptor-coat interactions during ER export.
Title: Selective inhibition of protein secretion by abrogating receptor-coat interactions during ER export.
A SURF4-to-proteoglycan relay mechanism that mediates the sorting and secretion of a tagged variant of sonic hedgehog.
Title: A SURF4-to-proteoglycan relay mechanism that mediates the sorting and secretion of a tagged variant of sonic hedgehog.
SURF4-induced tubular ERGIC selectively expedites ER-to-Golgi transport.
Title: SURF4-induced tubular ERGIC selectively expedites ER-to-Golgi transport.
Efficient progranulin exit from the ER requires its interaction with prosaposin, a Surf4 cargo.
Title: Efficient progranulin exit from the ER requires its interaction with prosaposin, a Surf4 cargo.
Receptor-Mediated ER Export of Lipoproteins Controls Lipid Homeostasis in Mice and Humans.
Title: Receptor-Mediated ER Export of Lipoproteins Controls Lipid Homeostasis in Mice and Humans.
SURF4 maintains stem-like properties via BIRC3 in ovarian cancer cells.
Title: SURF4 maintains stem-like properties via BIRC3 in ovarian cancer cells.
The Endoplasmic Reticulum Cargo Receptor SURF4 Facilitates Efficient Erythropoietin Secretion.
Title: The Endoplasmic Reticulum Cargo Receptor SURF4 Facilitates Efficient Erythropoietin Secretion.

Submit: New GeneRIF Correction See all GeneRIFs (20)

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

EBI GWAS Catalog

Description
Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

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
Envelope transmembrane glycoprotein gp41	env	HIV-1 gp41 is identified to have a physical interaction with surfeit 4 (SURF4) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	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

WI-12321 (e-PCR)
- UniSTS:21578

D9S1963 (e-PCR)
- UniSTS:81231

WI-13663 (e-PCR)
- UniSTS:76378

D9S1016E (e-PCR)
- UniSTS:25182

RH78112 (e-PCR)
- UniSTS:50536

RH36030 (e-PCR)
- UniSTS:9848

A002D41 (e-PCR)
- UniSTS:59868

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables COPII receptor activity	IEA Inferred from Electronic Annotation more info
enables cargo receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables cargo receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in COPII-coated vesicle cargo loading	IEA Inferred from Electronic Annotation more info
involved_in Golgi organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in Golgi organization	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in early endosome to Golgi transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in lipid export from cell	IEA Inferred from Electronic Annotation more info
involved_in lipid homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in lipoprotein transport	IDA Inferred from Direct Assay more info	PubMed
involved_in lipoprotein transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of organelle organization	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in protein exit from endoplasmic reticulum	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of lipid transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in COPII-coated ER to Golgi transport vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in azurophil granule membrane	TAS Traceable Author Statement more info
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
is_active_in endoplasmic reticulum exit site	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
is_active_in endoplasmic reticulum-Golgi intermediate compartment	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum-Golgi intermediate compartment	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum-Golgi intermediate compartment membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in transport vesicle	TAS Traceable Author Statement more info

General protein information

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Preferred Names: surfeit locus protein 4

Names: surface 4 integral membrane protein

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_001280788.2 → NP_001267717.1 surfeit locus protein 4 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate 5'-most exon and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct and shorter N-terminus, compared to isoform 1.

Source sequence(s)

AL593848, BM557312, BX647961

UniProtKB/TrEMBL

B7Z8F3

Conserved Domains (1) summary

pfam02077
Location:2 → 254

SURF4; SURF4 family
NM_001280789.2 → NP_001267718.1 surfeit locus protein 4 isoform 3

See identical proteins and their annotated locations for NP_001267718.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses two alternate splice sites in its 3' coding region, compared to variant 1. The encoded isoform (3) has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AF078867, BX647961, DC424374

Consensus CDS

CCDS65178.1

UniProtKB/TrEMBL

Q5T8U5

Related

ENSP00000419853.2, ENST00000485435.6

Conserved Domains (1) summary

cl21527
Location:4 → 157

DoxX; DoxX
NM_001280790.2 → NP_001267719.1 surfeit locus protein 4 isoform 4

See identical proteins and their annotated locations for NP_001267719.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) contains an alternate exon in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus, compared to isoform 1. Both variants 4 and 5 encode the same isoform.

Source sequence(s)

AK295435, BX647961

Consensus CDS

CCDS75929.1

UniProtKB/TrEMBL

A0A024R8C4, B7Z1G8, B7Z8F3

Related

ENSP00000483216.1, ENST00000618229.4

Conserved Domains (1) summary

cl21527
Location:1 → 226

DoxX; DoxX
NM_001280791.2 → NP_001267720.1 surfeit locus protein 4 isoform 4

See identical proteins and their annotated locations for NP_001267720.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) uses an alternate splice site in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus, compared to isoform 1. Both variants 4 and 5 encode the same isoform.

Source sequence(s)

AK316480, BX647961

Consensus CDS

CCDS75929.1

UniProtKB/TrEMBL

A0A024R8C4, B7Z1G8, B7Z8F3

Related

ENSP00000481666.1, ENST00000613129.4

Conserved Domains (1) summary

cl21527
Location:1 → 226

DoxX; DoxX
NM_001280792.2 → NP_001267721.1 surfeit locus protein 4 isoform 5

See identical proteins and their annotated locations for NP_001267721.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks an exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (5) has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK300004, BX647961, DC424374

Consensus CDS

CCDS65177.1

UniProtKB/Swiss-Prot

O15260

Related

ENSP00000446061.1, ENST00000545297.5

Conserved Domains (1) summary

cl21527
Location:4 → 119

DoxX; DoxX
NM_001280793.2 → NP_001267722.1 surfeit locus protein 4 isoform 6

See identical proteins and their annotated locations for NP_001267722.1

Status: REVIEWED

Description

Transcript Variant: This variant (7) lacks an exon in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (6) has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

BX647961, DA842525, DC424374

Conserved Domains (1) summary

cl21527
Location:1 → 152

DoxX; DoxX
NM_033161.4 → NP_149351.1 surfeit locus protein 4 isoform 1

See identical proteins and their annotated locations for NP_149351.1

Status: REVIEWED

Description

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

Source sequence(s)

BC018741, BX647961, DC424374

Consensus CDS

CCDS6968.1

UniProtKB/Swiss-Prot

B7Z6A4, O15260, O60923, Q5T8U6, Q9UNZ0, Q9UNZ1

UniProtKB/TrEMBL

B7Z8F3

Related

ENSP00000361057.3, ENST00000371989.8

Conserved Domains (1) summary

pfam02077
Location:4 → 269

SURF4; SURF4 family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

133361464..133377949 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011518944.3 → XP_011517246.1 surfeit locus protein 4 isoform X2

See identical proteins and their annotated locations for XP_011517246.1

UniProtKB/TrEMBL

B7Z7A8, B7Z8F3

Conserved Domains (1) summary

pfam02077
Location:4 → 260

SURF4; SURF4 family
XM_047423807.1 → XP_047279763.1 surfeit locus protein 4 isoform X2

UniProtKB/TrEMBL

B7Z7A8
XM_047423808.1 → XP_047279764.1 surfeit locus protein 4 isoform X4

UniProtKB/TrEMBL

A0A024R8C4, B7Z1G8
XM_047423805.1 → XP_047279761.1 surfeit locus protein 4 isoform X1
XM_047423804.1 → XP_047279760.1 surfeit locus protein 4 isoform X1
XM_047423806.1 → XP_047279762.1 surfeit locus protein 4 isoform X2

UniProtKB/TrEMBL

B7Z7A8
XM_047423803.1 → XP_047279759.1 surfeit locus protein 4 isoform X1
XM_011518945.4 → XP_011517247.1 surfeit locus protein 4 isoform X3

See identical proteins and their annotated locations for XP_011517247.1

Conserved Domains (1) summary

cl21527
Location:110 → 206

DoxX; DoxX
XM_047423802.1 → XP_047279758.1 surfeit locus protein 4 isoform X1

Reference GRCh38.p14 PATCHES

Genomic

NW_009646201.1 Reference GRCh38.p14 PATCHES

Range

187558..204043 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054331589.1 → XP_054187564.1 surfeit locus protein 4 isoform X2

UniProtKB/TrEMBL

B7Z7A8
XM_054331588.1 → XP_054187563.1 surfeit locus protein 4 isoform X2

UniProtKB/TrEMBL

B7Z7A8
XM_054331591.1 → XP_054187566.1 surfeit locus protein 4 isoform X4

UniProtKB/TrEMBL

A0A024R8C4, B7Z1G8
XM_054331587.1 → XP_054187562.1 surfeit locus protein 4 isoform X2

UniProtKB/TrEMBL

B7Z7A8
XM_054331590.1 → XP_054187565.1 surfeit locus protein 4 isoform X3
XM_054331586.1 → XP_054187561.1 surfeit locus protein 4 isoform X2

UniProtKB/TrEMBL

B7Z7A8
XM_054331585.1 → XP_054187560.1 surfeit locus protein 4 isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

145575418..145591909 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054363649.1 → XP_054219624.1 surfeit locus protein 4 isoform X2

UniProtKB/TrEMBL

B7Z7A8
XM_054363648.1 → XP_054219623.1 surfeit locus protein 4 isoform X2

UniProtKB/TrEMBL

B7Z7A8
XM_054363651.1 → XP_054219626.1 surfeit locus protein 4 isoform X4

UniProtKB/TrEMBL

A0A024R8C4, B7Z1G8
XM_054363647.1 → XP_054219622.1 surfeit locus protein 4 isoform X2

UniProtKB/TrEMBL

B7Z7A8
XM_054363650.1 → XP_054219625.1 surfeit locus protein 4 isoform X3
XM_054363646.1 → XP_054219621.1 surfeit locus protein 4 isoform X1