DBNL drebrin like [Homo sapiens (human)] - Gene

Summary

Official Symbol: DBNLprovided by HGNC
Official Full Name: drebrin likeprovided by HGNC
Primary source: HGNC:HGNC:2696
See related: Ensembl:ENSG00000136279 MIM:610106; AllianceGenome:HGNC:2696
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: ABP1; HIP55; SH3P7; HIP-55
Summary: Enables cadherin binding activity. Predicted to be involved in several processes, including Rac protein signal transduction; nervous system development; and podosome assembly. Located in cytoplasm; intracellular membrane-bounded organelle; and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in esophagus (RPKM 54.1), spleen (RPKM 52.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p13

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (44044702..44069456)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (44203197..44227954)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (44084301..44109055)

Chromosome 7 - NC_000007.14 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 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?

Dimerization of Human Drebrin-like Protein Governs Its Biological Activity.
Title: Dimerization of Human Drebrin-like Protein Governs Its Biological Activity.
findings show that mAbp1 and FHL2 are novel binding partners that differentially regulate Rho GTPase signaling and MTLn3 breast cancer cell invasion
Title: Mammalian Actin-binding Protein-1/Hip-55 Interacts with FHL2 and Negatively Regulates Cell Invasion.
Data suggest that by binding to both clathrin and F-actin, mammalian actin-binding protein 1 (mAbp1; HIP-55 or SH3P7) is specifically recruited at a late stage of clathrin-coated pits (CCPs) formation, which subsequently recruits dynamin to CCPs.
Title: Mammalian actin-binding protein 1/HIP-55 is essential for the scission of clathrin-coated pits by regulating dynamin-actin interaction.
The results presented here indicate that targeting IL-1alpha with subcutaneous MABp1 adminisration has a strong potential therapeutic value in treating psoriasis and may provide a novel future treatment of this often devastating disease.
Title: Open-Label Trial of MABp1, a True Human Monoclonal Antibody Targeting Interleukin 1α, for the Treatment of Psoriasis.
Data indicate that fourteen phosphorylation sites along the primary structure of hematopoietic progenitor kinase 1 (HPK1)-interacting protein of 55 kDa (HIP-55) rotein were identified.
Title: Phosphosite mapping of HIP-55 protein in mammalian cells.
HIP-55 expression promoted proliferation, colony formation, migration, and invasion of lung cancer cells and was upregulated in lung cancer cell lines and tumor tissues of lung cancer patients
Title: Pro-oncogenic function of HIP-55/Drebrin-like (DBNL) through Ser269/Thr291-phospho-sensor motifs.
Data suggest that HIP-55 could play an important role in the growth and cellular proliferation and HIP-55 dysfunction could be involved in tumorigenesis.
Title: Regulation of cell survival by the HIP-55 signaling network.
mAbp1 is of fundamental importance for spreading and migration under shear stress conditions, which are critical prerequisites for efficient PMN extravasation during inflammation.
Title: The mammalian actin-binding protein 1 is critical for spreading and intraluminal crawling of neutrophils under flow conditions.
Filamentous actin (F-actin)-binding protein 1 (Abp1/SH3P7/HIP-55) has a profound impact on synaptic organization by making a required functional connection between postsynaptic density components and postsynaptic actin dynamics.
Title: The actin-binding protein Abp1 controls dendritic spine morphology and is important for spine head and synapse formation.
HIP-55 has roles in T-cell proliferation, cytokine production, and immune responses
Title: HIP-55 is important for T-cell proliferation, cytokine production, and immune responses.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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
An atlas of genetic influences on human blood metabolites. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-16185 (e-PCR)
- UniSTS:82273

RH18175 (e-PCR)
- UniSTS:73845

PGAM2 (e-PCR)
- UniSTS:55158

STS-R68568 (e-PCR)
- UniSTS:37824

D7S2634 (e-PCR)
- UniSTS:16091

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	ISS Inferred from Sequence or Structural Similarity more info
enables actin filament binding	ISS Inferred from Sequence or Structural Similarity more info
enables cadherin binding	HDA more info	PubMed
enables enzyme activator activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IEA Inferred from Electronic Annotation more info
enables structural constituent of postsynaptic actin cytoskeleton	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in Rac protein signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in adaptive immune response	IEA Inferred from Electronic Annotation more info
involved_in endocytosis	IEA Inferred from Electronic Annotation more info
involved_in membrane organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron projection morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in podosome assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in postsynaptic actin cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in synapse assembly	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in cell cortex	ISS Inferred from Sequence or Structural Similarity more info
located_in clathrin-coated vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in early endosome	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in ficolin-1-rich granule lumen	TAS Traceable Author Statement more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in lamellipodium	ISS Inferred from Sequence or Structural Similarity more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in perikaryon	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in podosome	ISS Inferred from Sequence or Structural Similarity more info
located_in postsynaptic density	IEA Inferred from Electronic Annotation more info
located_in presynapse	IEA Inferred from Electronic Annotation more info
located_in ruffle	ISS Inferred from Sequence or Structural Similarity more info
located_in secretory granule lumen	TAS Traceable Author Statement more info
located_in tertiary granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: drebrin-like protein

Names: HPK1-interacting protein of 55 kDa; SH3 domain-containing protein 7; actin-binding protein 1; cervical SH3P7; cervical mucin-associated protein; drebrin-F; src homology 3 domain-containing protein HIP-55

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_001014436.3 → NP_001014436.1 drebrin-like protein isoform b

See identical proteins and their annotated locations for NP_001014436.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses two alternate in-frame splice sites compared to variant 3. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform c.

Source sequence(s)

AC017116, AF077353, BC011677

Consensus CDS

CCDS34623.1

UniProtKB/Swiss-Prot

A4D2I9, B4DDP6, B4DEM2, C9J7P1, P84070, Q6IAI8, Q96F30, Q96K74, Q9HBN8, Q9NR72, Q9UJU6

UniProtKB/TrEMBL

B4DDD6

Related

ENSP00000411701.1, ENST00000448521.6

Conserved Domains (3) summary

cd11281
Location:3 → 138

ADF_drebrin_like; ADF homology domain of drebrin and actin-binding protein 1 (abp1)

cd11960
Location:375 → 428

SH3_Abp1_eu; Src homology 3 domain of eumetazoan Actin-binding protein 1

cl27169
Location:225 → 374

ZipA; ZipA C-terminal domain. ZipA, a membrane-anchored protein, is one of at least nine essential gene products necessary for assembly of the septal ring which mediates cell division in E.coli. ZipA and FtsA directly bind FtsZ, a homolog of eukaryotic ...
NM_001122956.2 → NP_001116428.1 drebrin-like protein isoform c

See identical proteins and their annotated locations for NP_001116428.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (c).

Source sequence(s)

AC017116, AK027367, BC011677, DC404852

Consensus CDS

CCDS47579.1

UniProtKB/TrEMBL

B4DDD6

Related

ENSP00000417653.1, ENST00000468694.5

Conserved Domains (2) summary

cd11281
Location:3 → 138

ADF_drebrin_like; ADF homology domain of drebrin and actin-binding protein 1 (abp1)

cd11960
Location:384 → 437

SH3_Abp1_eu; Src homology 3 domain of eumetazoan Actin-binding protein 1
NM_001284313.2 → NP_001271242.1 drebrin-like protein isoform d

See identical proteins and their annotated locations for NP_001271242.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks two exons, uses an alternate in-frame splice site and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (d) has a shorter N-terminus compared to isoform c.

Source sequence(s)

AC017116, AF218020, AK293698

Consensus CDS

CCDS64634.1

UniProtKB/TrEMBL

B4DUF9

Related

ENSP00000415173.1, ENST00000440166.5

Conserved Domains (2) summary

cd11960
Location:272 → 325

SH3_Abp1_eu; Src homology 3 domain of eumetazoan Actin-binding protein 1

cl15697
Location:1 → 35

ADF_gelsolin; Actin depolymerization factor/cofilin- and gelsolin-like domains
NM_001284315.2 → NP_001271244.1 drebrin-like protein isoform e

Status: VALIDATED

Description

Transcript Variant: This variant (5) lacks two exons and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (e) has a shorter N-terminus compared to isoform c.

Source sequence(s)

AC017116, AF218020, AK300630

Consensus CDS

CCDS64633.1

UniProtKB/TrEMBL

B4DUF9

Related

ENSP00000417749.2, ENST00000490734.6

Conserved Domains (2) summary

cd11960
Location:281 → 334

SH3_Abp1_eu; Src homology 3 domain of eumetazoan Actin-binding protein 1

cl15697
Location:15 → 43

ADF_gelsolin; Actin depolymerization factor/cofilin- and gelsolin-like domains
NM_001362723.2 → NP_001349652.1 drebrin-like protein isoform f

Status: VALIDATED

Source sequence(s)

AC017116, AK027367, BC011677, DC404852, DT220937

UniProtKB/TrEMBL

B4DDD6

Conserved Domains (2) summary

cd11281
Location:3 → 138

ADF_drebrin_like; ADF homology domain of drebrin and actin-binding protein 1 (abp1)

cd11960
Location:383 → 436

SH3_Abp1_eu; Src homology 3 domain of eumetazoan Actin-binding protein 1
NM_014063.7 → NP_054782.2 drebrin-like protein isoform a

See identical proteins and their annotated locations for NP_054782.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) uses an alternate in-frame splice site compared to variant 3. The resulting isoform (a) has the same N- and C-termini but is shorter compared to isoform c.

Source sequence(s)

AC017116, BC011677, DC404852

Consensus CDS

CCDS34622.1

UniProtKB/TrEMBL

B4DDD6

Related

ENSP00000419992.1, ENST00000494774.5

Conserved Domains (2) summary

cd11281
Location:3 → 138

ADF_drebrin_like; ADF homology domain of drebrin and actin-binding protein 1 (abp1)

cd11960
Location:376 → 429

SH3_Abp1_eu; Src homology 3 domain of eumetazoan Actin-binding protein 1