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Protein

ENTH domain-containing protein 1

Gene

ENTHD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
ENTH domain-containing protein 1
Alternative name(s):
Epsin-2B
Gene namesi
Name:ENTHD1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:26352. ENTHD1.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA145148940.

Polymorphism and mutation databases

BioMutaiENTHD1.
DMDMi74728393.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 607607ENTH domain-containing protein 1PRO_0000312179Add
BLAST

Proteomic databases

PaxDbiQ8IYW4.
PeptideAtlasiQ8IYW4.
PRIDEiQ8IYW4.

PTM databases

iPTMnetiQ8IYW4.
PhosphoSiteiQ8IYW4.

Expressioni

Gene expression databases

BgeeiENSG00000176177.
CleanExiHS_ENTHD1.
GenevisibleiQ8IYW4. HS.

Organism-specific databases

HPAiHPA019800.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000317431.

Structurei

3D structure databases

ProteinModelPortaliQ8IYW4.
SMRiQ8IYW4. Positions 2-141.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini9 – 141133ENTHPROSITE-ProRule annotationAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili543 – 57432Sequence analysisAdd
BLAST

Sequence similaritiesi

Contains 1 ENTH (epsin N-terminal homology) domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG2056. Eukaryota.
ENOG410XSM0. LUCA.
GeneTreeiENSGT00550000074611.
HOGENOMiHOG000038004.
HOVERGENiHBG071423.
InParanoidiQ8IYW4.
OMAiQVITLLM.
OrthoDBiEOG091G05DR.
PhylomeDBiQ8IYW4.
TreeFamiTF313361.

Family and domain databases

Gene3Di1.25.40.90. 1 hit.
InterProiIPR013809. ENTH.
IPR008942. ENTH_VHS.
[Graphical view]
PfamiPF01417. ENTH. 1 hit.
[Graphical view]
SMARTiSM00273. ENTH. 1 hit.
[Graphical view]
SUPFAMiSSF48464. SSF48464. 1 hit.
PROSITEiPS50942. ENTH. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8IYW4-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAFRRQVKNF VKNYSDAEIK VREATSNDPW GPSSSLMLDI SDLTFNTISL
60 70 80 90 100
SEIMNMLWHR LNDHGKNWRH VYKSLTLMDY LIKNGSKKVI QHCREGFCNL
110 120 130 140 150
QTLKDFQHID EAGKDQGYYI REKSKQVITL LMDEPLLCKE REVACRTRQR
160 170 180 190 200
TSHSILFSKR QLGSSNSLTA CTSAPTPDIS ASEKKYKLPK FGRLHNKRNV
210 220 230 240 250
CKAGLKQEHC QDVHLPTETM LSQETLPLKI HGWKSTEDLM TFLDDDPELP
260 270 280 290 300
LLATPPSIVS PITCLSEAEE VCNLSGADAV PTLSENSPSG QRDVSLDKRS
310 320 330 340 350
DGIFTNTVTE NLLETPLEKQ SAAEGLKTLT ILPACWSSKE EFISPDLRVS
360 370 380 390 400
KSDSTFHNQA SVETLCLSPS FKIFDRVKEI VINKAYQKPA QSSIQMDDKI
410 420 430 440 450
LKTTTRVSTA SEGASSFSPL SMSSPDLASP EKSAHLLSPI LAGPSFWTLS
460 470 480 490 500
HQQLSSTSFK DEDKTAKLHH SFASRGPVSS DVEENDSLNL LGILPNNSDS
510 520 530 540 550
AKKNISHISS SHWGEFSTQN VDQFIPLSCS GFQSTKDFPQ EPEAKNSISV
560 570 580 590 600
LLREVKRAIA RLHEDLSTVI QELNVINNIL MSMSLNSSQI SQSSQVPQSS

EGSSDQI
Length:607
Mass (Da):67,538
Last modified:March 1, 2003 - v1
Checksum:i0FB7FE674E54D4EF
GO

Sequence cautioni

The sequence BAB71688 differs from that shown. Reason: Erroneous initiation. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti109 – 1091I → T.
Corresponds to variant rs17319801 [ dbSNP | Ensembl ].
VAR_037449

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CR456452 mRNA. Translation: CAG30338.1.
Z82206, AL022319, AL022353 Genomic DNA. Translation: CAQ07276.1.
AL022353, AL022319, Z82206 Genomic DNA. Translation: CAQ08616.1.
AL022319, AL022353, Z82206 Genomic DNA. Translation: CAQ09680.1.
CH471095 Genomic DNA. Translation: EAW60353.1.
BC033895 mRNA. Translation: AAH33895.1.
AK058150 mRNA. Translation: BAB71688.1. Different initiation.
CCDSiCCDS13998.1.
RefSeqiNP_689725.2. NM_152512.3.
XP_006724212.1. XM_006724149.3.
UniGeneiHs.474869.

Genome annotation databases

EnsembliENST00000325157; ENSP00000317431; ENSG00000176177.
GeneIDi150350.
KEGGihsa:150350.
UCSCiuc003ayg.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CR456452 mRNA. Translation: CAG30338.1.
Z82206, AL022319, AL022353 Genomic DNA. Translation: CAQ07276.1.
AL022353, AL022319, Z82206 Genomic DNA. Translation: CAQ08616.1.
AL022319, AL022353, Z82206 Genomic DNA. Translation: CAQ09680.1.
CH471095 Genomic DNA. Translation: EAW60353.1.
BC033895 mRNA. Translation: AAH33895.1.
AK058150 mRNA. Translation: BAB71688.1. Different initiation.
CCDSiCCDS13998.1.
RefSeqiNP_689725.2. NM_152512.3.
XP_006724212.1. XM_006724149.3.
UniGeneiHs.474869.

3D structure databases

ProteinModelPortaliQ8IYW4.
SMRiQ8IYW4. Positions 2-141.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000317431.

PTM databases

iPTMnetiQ8IYW4.
PhosphoSiteiQ8IYW4.

Polymorphism and mutation databases

BioMutaiENTHD1.
DMDMi74728393.

Proteomic databases

PaxDbiQ8IYW4.
PeptideAtlasiQ8IYW4.
PRIDEiQ8IYW4.

Protocols and materials databases

DNASUi150350.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000325157; ENSP00000317431; ENSG00000176177.
GeneIDi150350.
KEGGihsa:150350.
UCSCiuc003ayg.3. human.

Organism-specific databases

CTDi150350.
GeneCardsiENTHD1.
HGNCiHGNC:26352. ENTHD1.
HPAiHPA019800.
neXtProtiNX_Q8IYW4.
PharmGKBiPA145148940.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2056. Eukaryota.
ENOG410XSM0. LUCA.
GeneTreeiENSGT00550000074611.
HOGENOMiHOG000038004.
HOVERGENiHBG071423.
InParanoidiQ8IYW4.
OMAiQVITLLM.
OrthoDBiEOG091G05DR.
PhylomeDBiQ8IYW4.
TreeFamiTF313361.

Miscellaneous databases

GenomeRNAii150350.
PROiQ8IYW4.

Gene expression databases

BgeeiENSG00000176177.
CleanExiHS_ENTHD1.
GenevisibleiQ8IYW4. HS.

Family and domain databases

Gene3Di1.25.40.90. 1 hit.
InterProiIPR013809. ENTH.
IPR008942. ENTH_VHS.
[Graphical view]
PfamiPF01417. ENTH. 1 hit.
[Graphical view]
SMARTiSM00273. ENTH. 1 hit.
[Graphical view]
SUPFAMiSSF48464. SSF48464. 1 hit.
PROSITEiPS50942. ENTH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiENTD1_HUMAN
AccessioniPrimary (citable) accession number: Q8IYW4
Secondary accession number(s): B0QYD5, Q5H9F7, Q96LK3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: March 1, 2003
Last modified: September 7, 2016
This is version 105 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.