GGA1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GGA1provided by HGNC
Official Full Name: golgi associated, gamma adaptin ear containing, ARF binding protein 1provided by HGNC
Primary source: HGNC:HGNC:17842
See related: Ensembl:ENSG00000100083 MIM:606004; AllianceGenome:HGNC:17842
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
Summary: This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) protein family. Members of this family are ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Broad expression in testis (RPKM 36.8), spleen (RPKM 8.3) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.1

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (37608834..37633564)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (38068513..38094844)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (38004841..38029571)

Chromosome 22 - NC_000022.11 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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Inactivation of the three GGA genes in HeLa cells partially compromises lysosomal enzyme sorting.
Title: Inactivation of the three GGA genes in HeLa cells partially compromises lysosomal enzyme sorting.
The adaptor, GGA1, and retromer are essential to mediate rapid trafficking of phosphorylated BACE1 to recycling endosomes. Therefore, post-translational phosphorylation of DISLL enhances the exit of BACE1 from early endosomes, a pathway mediated by GGA1 and retromer, which is important in regulating amyloid beta production.
Title: GGA1 regulates signal-dependent sorting of BACE1 to recycling endosomes, which moderates Aβ production.
full length alpha2B-AR associated with GGA2 but not GGA1, its third intracellular loop was found to directly interact with both GGA1 and GGA2. More interestingly, further mapping of interaction domains showed that the GGA1 hinge region and the GGA2 GAE domain bound to multiple subdomains of the loop.
Title: Regulation of α(2B)-Adrenergic Receptor Cell Surface Transport by GGA1 and GGA2.
These findings show that the AD-like phenotype of NPC model cells can be partly reverted by promoting a non-amyloidogenic processing of APP through the upregulation of GGA1 supporting its preventive role against AD
Title: GGA1 overexpression attenuates amyloidogenic processing of the amyloid precursor protein in Niemann-Pick type C cells.
These data indicate that clathrin is required for the function of AP-1- and GGA-coated carriers at the trans-Golgi network but may be dispensable for outward traffic en route to the plasma membrane.
Title: Clathrin terminal domain-ligand interactions regulate sorting of mannose 6-phosphate receptors mediated by AP-1 and GGA adaptors.
On basis of these results, propose that GGA1 facilitates LR11 endocytic traffic and that LR11 modulates A-beta levels by promoting amyloid-beta precursor protein traffic to the endocytic recycling compartment
Title: GGA1-mediated endocytic traffic of LR11/SorLA alters APP intracellular distribution and amyloid-β production.
GGA overexpression causes various sorting defects as measured by recycling of CD-MPR, internalization of transferrin receptor, and the subcellular localization of proteins like Tsg101, ubiquitin, and Hrs.
Title: Defects in cellular sorting and retroviral assembly induced by GGA overexpression.
p56 tightly cooperates with the GGAs in the sorting of cathepsin D to lysosomes, probably by enabling the movement of GGA-containing transport carriers.
Title: The trans-Golgi network accessory protein p56 promotes long-range movement of GGA/clathrin-containing transport carriers and lysosomal enzyme sorting.
These results show that the dual roles of PI4P can promote specific GGA targeting and cargo recognition at the trans-Golgi network.
Title: PI4P promotes the recruitment of the GGA adaptor proteins to the trans-Golgi network and regulates their recognition of the ubiquitin sorting signal.
A hydrophobic surface patch on the C-terminal three-helix bundle motif of the GGA1 GAT domain is directly involved in binding with a coiled-coil region of rabaptin-5.
Title: The interaction of the human GGA1 GAT domain with rabaptin-5 is mediated by residues on its three-helix bundle.

Submit: New GeneRIF Correction See all GeneRIFs (24)

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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	Genome-wide shRNA screening identifies GGA1, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells	PubMed
Pr55(Gag)	gag	GGA1 overexpression severely reduces virus particle production by impairing Gag trafficking to the membrane, an effect that requires the MA domain of Gag	PubMed
	gag	GGA1-induced, but not GGA2- or GGA3-induced, compartments accumulate unprocessed Gag and virus-like particles	PubMed
Vpr	vpr	Expression of a patient-derived HIV-1 Vpr protein reveals a significant reduction in Vpr nuclear import. Vpr F72L mutation is responsible for this decreased Vpr nuclear import and the F72L mutant is co-localized with gamma-adaptin in the Golgi apparatus	PubMed
matrix	gag	GGA1 overexpression severely reduces virus particle production by impairing Gag trafficking to the membrane, which requires the MA domain of Gag	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

WI-11639 (e-PCR)
- UniSTS:65312

A002Q07 (e-PCR)
- UniSTS:65313

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables phosphatidylinositol binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IBA Inferred from Biological aspect of Ancestor more info
enables small GTPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in Golgi to plasma membrane protein transport	IDA Inferred from Direct Assay more info	PubMed
involved_in Golgi to plasma membrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular protein transport	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular protein transport	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in protein localization	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization to cell surface	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to cell surface	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization to ciliary membrane	IEA Inferred from Electronic Annotation more info
involved_in retrograde transport, endosome to Golgi	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in Golgi apparatus	TAS Traceable Author Statement more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
located_in early endosome membrane	TAS Traceable Author Statement more info
located_in endosome membrane	TAS Traceable Author Statement more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in membrane	HDA more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
part_of protein-containing complex	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in trans-Golgi network	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ADP-ribosylation factor-binding protein GGA1

Names: ADP-ribosylation factor binding protein 1; gamma-adaptin related protein 1; golgi-localized, gamma ear-containing, ARF-binding protein 1

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_001001560.3 → NP_001001560.1 ADP-ribosylation factor-binding protein GGA1 isoform 2

See identical proteins and their annotated locations for NP_001001560.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks 2 in-frame exons in the coding region, as compared to variant 1. The encoded isoform 2 thus lacks an internal segment, as compared to isoform 1.

Source sequence(s)

AK075256, AL110219, BC044629

Consensus CDS

CCDS33643.1

UniProtKB/Swiss-Prot

Q9UJY5

Related

ENSP00000321288.8, ENST00000325180.12

Conserved Domains (3) summary

smart00809
Location:430 → 544

Alpha_adaptinC2; Adaptin C-terminal domain

cd03567
Location:9 → 147

VHS_GGA; VHS domain family, GGA subfamily; GGA (Golgi-localized, Gamma-ear-containing, Arf-binding) comprise a subfamily of ubiquitously expressed, monomeric, motif-binding cargo/clathrin adaptor proteins. The VHS domain has a superhelical structure similar to ...

cl03906
Location:210 → 277

GAT_SF; GAT domain found in eukaryotic ADP-ribosylation factor (Arf)-binding proteins (GGAs), metazoan myb protein 1 (Tom1)-like proteins, and similar proteins
NM_001172687.2 → NP_001166158.1 ADP-ribosylation factor-binding protein GGA1 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an in-frame segment in the coding region, as compared to variant 1. The resulting isoform (4) lacks an internal segment of 4 aa, as compared to isoform 1.

Source sequence(s)

AK075256, AL110219

UniProtKB/Swiss-Prot

Q9UJY5

Conserved Domains (4) summary

smart00809
Location:513 → 627

Alpha_adaptinC2; Adaptin C-terminal domain

cd03567
Location:9 → 147

VHS_GGA; VHS domain family, GGA subfamily; GGA (Golgi-localized, Gamma-ear-containing, Arf-binding) comprise a subfamily of ubiquitously expressed, monomeric, motif-binding cargo/clathrin adaptor proteins. The VHS domain has a superhelical structure similar to ...

cd14239
Location:210 → 299

GAT_GGA1_GGA2; GAT domain found in ADP-ribosylation factor (Arf)-binding proteins GGA1 and GGA2

cl00753
Location:180 → 234

DUF327; Protein of unknown function (DUF327)
NM_001172688.2 → NP_001166159.1 ADP-ribosylation factor-binding protein GGA1 isoform 5

See identical proteins and their annotated locations for NP_001166159.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) has an alternate 5' sequence, which results in a downstream AUG start codon, as compared to variant 1. The resulting isoform (5) has a shorter N-terminus, as compared to isoform 1.

Source sequence(s)

AK122898, AL110219

Consensus CDS

CCDS54526.1

UniProtKB/Swiss-Prot

Q9UJY5

Related

ENSP00000385287.1, ENST00000406772.5

Conserved Domains (4) summary

smart00809
Location:444 → 558

Alpha_adaptinC2; Adaptin C-terminal domain

cd14239
Location:137 → 225

GAT_GGA1_GGA2; canonical GAT domain found in ADP-ribosylation factor (Arf)-binding proteins GGA1 and GGA2

pfam18308
Location:96 → 134

GGA_N-GAT; GGA N-GAT domain

cl02544
Location:1 → 74

VHS_ENTH_ANTH; VHS, ENTH and ANTH domain superfamily
NM_001363771.2 → NP_001350700.1 ADP-ribosylation factor-binding protein GGA1 isoform 6

Status: REVIEWED

Source sequence(s)

AL110219, CR456493

Consensus CDS

CCDS87022.1

Related

ENSP00000371175.5, ENST00000381756.9

Conserved Domains (3) summary

smart00809
Location:534 → 648

Alpha_adaptinC2; Adaptin C-terminal domain

cd03567
Location:9 → 164

VHS_GGA; VHS domain family, GGA subfamily; GGA (Golgi-localized, Gamma-ear-containing, Arf-binding) comprise a subfamily of ubiquitously expressed, monomeric, motif-binding cargo/clathrin adaptor proteins. The VHS domain has a superhelical structure similar to ...

cd14239
Location:227 → 316

GAT_GGA1_GGA2; GAT domain found in ADP-ribosylation factor (Arf)-binding proteins GGA1 and GGA2
NM_013365.5 → NP_037497.1 ADP-ribosylation factor-binding protein GGA1 isoform 1

See identical proteins and their annotated locations for NP_037497.1

Status: REVIEWED

Description

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

Source sequence(s)

AK075256, AL110219

Consensus CDS

CCDS13951.1

UniProtKB/Swiss-Prot

A8K3D3, B0QYR7, Q5R3N1, Q5TG07, Q6IC75, Q86YA9, Q8NCS6, Q9BW94, Q9UG00, Q9UGW0, Q9UGW1, Q9UJY5

Related

ENSP00000341344.4, ENST00000343632.9

Conserved Domains (4) summary

smart00809
Location:517 → 631

Alpha_adaptinC2; Adaptin C-terminal domain

cd03567
Location:9 → 147

VHS_GGA; VHS domain family, GGA subfamily; GGA (Golgi-localized, Gamma-ear-containing, Arf-binding) comprise a subfamily of ubiquitously expressed, monomeric, motif-binding cargo/clathrin adaptor proteins. The VHS domain has a superhelical structure similar to ...

cd14239
Location:210 → 299

GAT_GGA1_GGA2; GAT domain found in ADP-ribosylation factor (Arf)-binding proteins GGA1 and GGA2

cl00753
Location:180 → 234

DUF327; Protein of unknown function (DUF327)

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_000022.11 Reference GRCh38.p14 Primary Assembly

Range

37608834..37633564

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024452214.2 → XP_024307982.1 ADP-ribosylation factor-binding protein GGA1 isoform X3

Conserved Domains (3) summary

smart00809
Location:447 → 561

Alpha_adaptinC2; Adaptin C-terminal domain

cd03567
Location:9 → 164

VHS_GGA; VHS domain family, GGA subfamily; GGA (Golgi-localized, Gamma-ear-containing, Arf-binding) comprise a subfamily of ubiquitously expressed, monomeric, motif-binding cargo/clathrin adaptor proteins. The VHS domain has a superhelical structure similar to ...

cl03906
Location:227 → 294

GAT_SF; GAT domain found in eukaryotic ADP-ribosylation factor (Arf)-binding proteins (GGAs), metazoan myb protein 1 (Tom1)-like proteins, and similar proteins
XM_047441327.1 → XP_047297283.1 ADP-ribosylation factor-binding protein GGA1 isoform X7
XM_006724229.2 → XP_006724292.1 ADP-ribosylation factor-binding protein GGA1 isoform X4

See identical proteins and their annotated locations for XP_006724292.1

UniProtKB/Swiss-Prot

Q9UJY5

Conserved Domains (4) summary

smart00809
Location:444 → 558

Alpha_adaptinC2; Adaptin C-terminal domain

cd14239
Location:137 → 225

GAT_GGA1_GGA2; canonical GAT domain found in ADP-ribosylation factor (Arf)-binding proteins GGA1 and GGA2

pfam18308
Location:96 → 134

GGA_N-GAT; GGA N-GAT domain

cl02544
Location:1 → 74

VHS_ENTH_ANTH; VHS, ENTH and ANTH domain superfamily
XM_011530123.3 → XP_011528425.1 ADP-ribosylation factor-binding protein GGA1 isoform X1

Conserved Domains (4) summary

smart00809
Location:526 → 640

Alpha_adaptinC2; Adaptin C-terminal domain

cd03567
Location:7 → 156

VHS_GGA; VHS domain family, GGA subfamily; GGA (Golgi-localized, Gamma-ear-containing, Arf-binding) comprise a subfamily of ubiquitously expressed, monomeric, motif-binding cargo/clathrin adaptor proteins. The VHS domain has a superhelical structure similar to ...

cd14239
Location:219 → 308

GAT_GGA1_GGA2; GAT domain found in ADP-ribosylation factor (Arf)-binding proteins GGA1 and GGA2

cl00753
Location:189 → 243

DUF327; Protein of unknown function (DUF327)
XM_005261518.3 → XP_005261575.1 ADP-ribosylation factor-binding protein GGA1 isoform X2

Conserved Domains (4) summary

smart00809
Location:509 → 623

Alpha_adaptinC2; Adaptin C-terminal domain

cd03567
Location:7 → 139

VHS_GGA; VHS domain family, GGA subfamily; GGA (Golgi-localized, Gamma-ear-containing, Arf-binding) comprise a subfamily of ubiquitously expressed, monomeric, motif-binding cargo/clathrin adaptor proteins. The VHS domain has a superhelical structure similar to ...

cd14239
Location:202 → 291

GAT_GGA1_GGA2; GAT domain found in ADP-ribosylation factor (Arf)-binding proteins GGA1 and GGA2

cl00753
Location:172 → 226

DUF327; Protein of unknown function (DUF327)
XM_047441323.1 → XP_047297279.1 ADP-ribosylation factor-binding protein GGA1 isoform X5
XM_047441325.1 → XP_047297281.1 ADP-ribosylation factor-binding protein GGA1 isoform X4

Conserved Domains (4) summary

smart00809
Location:444 → 558

Alpha_adaptinC2; Adaptin C-terminal domain

cd14239
Location:137 → 225

GAT_GGA1_GGA2; canonical GAT domain found in ADP-ribosylation factor (Arf)-binding proteins GGA1 and GGA2

pfam18308
Location:96 → 134

GGA_N-GAT; GGA N-GAT domain

cl02544
Location:1 → 74

VHS_ENTH_ANTH; VHS, ENTH and ANTH domain superfamily
XM_024452216.2 → XP_024307984.1 ADP-ribosylation factor-binding protein GGA1 isoform X4

Conserved Domains (4) summary

smart00809
Location:444 → 558

Alpha_adaptinC2; Adaptin C-terminal domain

cd14239
Location:137 → 225

GAT_GGA1_GGA2; canonical GAT domain found in ADP-ribosylation factor (Arf)-binding proteins GGA1 and GGA2

pfam18308
Location:96 → 134

GGA_N-GAT; GGA N-GAT domain

cl02544
Location:1 → 74

VHS_ENTH_ANTH; VHS, ENTH and ANTH domain superfamily
XM_047441324.1 → XP_047297280.1 ADP-ribosylation factor-binding protein GGA1 isoform X4

Conserved Domains (4) summary

smart00809
Location:444 → 558

Alpha_adaptinC2; Adaptin C-terminal domain

cd14239
Location:137 → 225

GAT_GGA1_GGA2; canonical GAT domain found in ADP-ribosylation factor (Arf)-binding proteins GGA1 and GGA2

pfam18308
Location:96 → 134

GGA_N-GAT; GGA N-GAT domain

cl02544
Location:1 → 74

VHS_ENTH_ANTH; VHS, ENTH and ANTH domain superfamily
XM_024452215.2 → XP_024307983.1 ADP-ribosylation factor-binding protein GGA1 isoform X4

Conserved Domains (4) summary

smart00809
Location:444 → 558

Alpha_adaptinC2; Adaptin C-terminal domain

cd14239
Location:137 → 225

GAT_GGA1_GGA2; canonical GAT domain found in ADP-ribosylation factor (Arf)-binding proteins GGA1 and GGA2

pfam18308
Location:96 → 134

GGA_N-GAT; GGA N-GAT domain

cl02544
Location:1 → 74

VHS_ENTH_ANTH; VHS, ENTH and ANTH domain superfamily
XM_047441326.1 → XP_047297282.1 ADP-ribosylation factor-binding protein GGA1 isoform X4

Conserved Domains (4) summary

smart00809
Location:444 → 558

Alpha_adaptinC2; Adaptin C-terminal domain

cd14239
Location:137 → 225

GAT_GGA1_GGA2; canonical GAT domain found in ADP-ribosylation factor (Arf)-binding proteins GGA1 and GGA2

pfam18308
Location:96 → 134

GGA_N-GAT; GGA N-GAT domain

cl02544
Location:1 → 74

VHS_ENTH_ANTH; VHS, ENTH and ANTH domain superfamily
XM_024452217.2 → XP_024307985.1 ADP-ribosylation factor-binding protein GGA1 isoform X6

Conserved Domains (3) summary

smart00809
Location:380 → 494

Alpha_adaptinC2; Adaptin C-terminal domain

cd14239
Location:73 → 162

GAT_GGA1_GGA2; GAT domain found in ADP-ribosylation factor (Arf)-binding proteins GGA1 and GGA2

cl00753
Location:43 → 97

DUF327; Protein of unknown function (DUF327)

Alternate T2T-CHM13v2.0

Genomic

NC_060946.1 Alternate T2T-CHM13v2.0

Range

38068513..38094844

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054325510.1 → XP_054181485.1 ADP-ribosylation factor-binding protein GGA1 isoform X8
XM_054325509.1 → XP_054181484.1 ADP-ribosylation factor-binding protein GGA1 isoform X8
XM_054325514.1 → XP_054181489.1 ADP-ribosylation factor-binding protein GGA1 isoform X3
XM_054325512.1 → XP_054181487.1 ADP-ribosylation factor-binding protein GGA1 isoform X9
XM_054325517.1 → XP_054181492.1 ADP-ribosylation factor-binding protein GGA1 isoform X10
XM_054325521.1 → XP_054181496.1 ADP-ribosylation factor-binding protein GGA1 isoform X7
XM_054325513.1 → XP_054181488.1 ADP-ribosylation factor-binding protein GGA1 isoform X2
XM_054325516.1 → XP_054181491.1 ADP-ribosylation factor-binding protein GGA1 isoform X4
XM_054325518.1 → XP_054181493.1 ADP-ribosylation factor-binding protein GGA1 isoform X5
XM_054325511.1 → XP_054181486.1 ADP-ribosylation factor-binding protein GGA1 isoform X1
XM_054325515.1 → XP_054181490.1 ADP-ribosylation factor-binding protein GGA1 isoform X4
XM_054325520.1 → XP_054181495.1 ADP-ribosylation factor-binding protein GGA1 isoform X4
XM_054325519.1 → XP_054181494.1 ADP-ribosylation factor-binding protein GGA1 isoform X6

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001001561.2: Suppressed sequence

Description

NM_001001561.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein, and the transcript appears to retain intronic sequence at its 3' end.