iUUCD 2.0 - integrated annotations for ubiquitin and ubiquitin-like conjugation database

Ensembl Gene ID	Ensembl Transcript ID	Ensembl Protein ID
ENSG00000144061.12	ENST00000316534.8	ENSP00000313169.4
ENSG00000144061.12	ENST00000445609.6	ENSP00000389879.2
ENSG00000144061.12	ENST00000393272.7	ENSP00000376953.3
ENSG00000144061.12	ENST00000355301.8	ENSP00000347452.4
ENSG00000144061.12	ENST00000417665.5	ENSP00000402176.1
ENSG00000144061.12	ENST00000422492.1	ENSP00000392562.1
ENSG00000144061.12	ENST00000418527.1	ENSP00000412351.1
ENSG00000144061.12	ENST00000449600.1	ENSP00000406453.1

Annotation

Cancer Mutation
TCGA	ICGC	COSMIC	CGAP
IntOGen
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
GEO	ArrayExpress	TCGA	ICGC
COSMIC	THPA	HPM
DNA & RNA Element
UTRdb	AREsite	circBase	circRNADb
CircNet	miRTarBase	microRNA	TRANSFAC
TargetScan	RepTar	SomamiR	miRcode
RAID2
Protein-protein Interaction
IID	iRefIndex	PINA	HINT
Mentha	InWeb_IM
Protein 3D Structure
PDB	MMDB
Disease-associated Variation
ClinVar	GWASdb	GWAS Central	OMIM
Post-translational Modifications (PTMs)
CPLM	dbPAF	PhosphositePlus	dbPTM
UniProt	BioGRID	mUbiSiDa
DNA Methylation
TCGA	ICGC	COSMIC
Protein Expression/Proteomics
THPA	HPM	GPMDB

Status

Unreviewed

Classification

Family	E-Value	Score	Start	End
UBD/SH3	4.60e-10	41.0	160	209

Active Site

Position(s)	Description	Evidence
N/A	N/A	N/A

Domain Profile

UBD/SH3

   S: 9    lydyeaqnddeLtlkkGdvvlviekeeqdegWlkgvkelegkrGlfPenFvek 61
             d++aq+ ++Lt+kkG+++lvi  e++  gW+ + k+++g +Gl+P  + e 
   Q: 160  VGDFTAQQVGDLTFKKGEILLVI--EKKPDGWWIA-KDAKGNEGLVPRTYLEP 209
           559********************..88899***99.7***********99875 PP

Organism

Homo sapiens

Functional Description
(View)

Together with BCAR1 it may play a role in the control of epithelial cell polarity. Involved in the organization of apical junctions in kidney cells together with NPHP4 and RPGRIP1L/NPHP8 (By similarity). Does not seem to be strictly required for ciliogenesis (By similarity). Seems to help to recruit PTK2B/PYK2 to cell matrix adhesions, thereby initiating phosphorylation of PTK2B/PYK2 and PTK2B/PYK2-dependent signaling. May play a role in the regulation of intraflagellar transport (IFT) during cilia assembly. Required for normal retina development. In connecting photoreceptor cilia influences the movement of some IFT proteins such as IFT88 and WDR19. Involved in spermatogenesis (By similarity).

Protein Sequence
(Fasta)

MLARRQRDPL QALRRRNQEL KQQVDSLLSE SQLKEALEPN KRQHIYQRCI QLKQAIDENK 60
NALQKLSKAD ESAPVANYNQ RKEEEHTLLD KLTQQLQGLA VTISRENITE VGAPTEEEEE 120

It may take some time, please wait.

Nucleotide Sequence
(Fasta)

GGGGCTGGGA GGCGGGCGCA CATCGATGGC GTCACCTTCT GGCGCCGCCG GTTGGTTTCC 60
CTGGCAACTG GAGCAATCAG AGCACCGCAG CCAGGGAGAT GCTGGCGAGA CGACAGCGAG 120

It may take some time, please wait.

Sequence Source

Ensembl

Keyword

KW-0002--3D-structure
KW-0025--Alternative splicing
KW-0965--Cell junction
KW-0966--Cell projection
KW-1186--Ciliopathy
KW-0969--Cilium
KW-0970--Cilium biogenesis/degradation
KW-0175--Coiled coil
KW-0181--Complete proteome
KW-0963--Cytoplasm
KW-0206--Cytoskeleton
KW-0221--Differentiation
KW-0225--Disease mutation
KW-0979--Joubert syndrome
KW-0983--Nephronophthisis
KW-0597--Phosphoprotein
KW-0621--Polymorphism
KW-1185--Reference proteome
KW-0980--Senior-Loken syndrome
KW-0728--SH3 domain
KW-0744--Spermatogenesis
KW-0796--Tight junction

Interpro

IPR030642--NPHP1_SH3
IPR001452--SH3_domain

PROSITE

PS50002--SH3

Pfam

PF00018--SH3_1

SMART

SM00326--SH3

Gene Ontology

GO:0005912--C:adherens junction
GO:0005923--C:bicellular tight junction
GO:0005911--C:cell-cell junction
GO:0005856--C:cytoskeleton
GO:0005829--C:cytosol
GO:0016020--C:membrane
GO:0031514--C:motile cilium
GO:0032391--C:photoreceptor connecting cilium
GO:0005198--F:structural molecule activity
GO:0030036--P:actin cytoskeleton organization
GO:0030030--P:cell projection organization
GO:0097711--P:ciliary basal body docking
GO:0007588--P:excretion
GO:1903348--P:positive regulation of bicellular tight junction assembly
GO:0060041--P:retina development in camera-type eye
GO:0007165--P:signal transduction
GO:0016337--P:single organismal cell-cell adhesion
GO:0048515--P:spermatid differentiation
GO:0007632--P:visual behavior

KEGG

hsa:4867

Orthology

iUUCD ID	Species	Identity	E-value	Score
IUUC-Aml-001244	Ailuropoda melanoleuca	79.65	0.00e+00	1074.00
IUUC-Aca-004918	Anolis carolinensis	59.60	0.00e+00	758.00
IUUC-Ame-011864	Astyanax mexicanus	56.39	6.00e-99	355.00
IUUC-Bta-013182	Bos taurus	72.04	0.00e+00	927.00
IUUC-Cpo-022082	Cavia porcellus	68.01	0.00e+00	874.00
IUUC-Csa-023896	Chlorocebus sabaeus	85.31	0.00e+00	1092.00
IUUC-Cin-025783	Ciona intestinalis	42.57	2.00e-102	367.00
IUUC-Csv-026201	Ciona savignyi	44.83	1.00e-105	377.00
IUUC-Dre-028081	Danio rerio	54.98	1.00e-133	470.00
IUUC-Eca-034408	Equus caballus	72.80	0.00e+00	967.00
IUUC-Fca-036474	Felis catus	71.93	0.00e+00	963.00
IUUC-Ggo-045393	Gorilla gorilla	79.51	0.00e+00	1088.00
IUUC-Lch-050573	Latimeria chalumnae	50.26	2.00e-137	483.00
IUUC-Loc-052676	Lepisosteus oculatus	62.82	4.00e-163	568.00
IUUC-Laf-053900	Loxodonta africana	74.96	0.00e+00	944.00
IUUC-Mcc-054917	Macaca mulatta	82.85	0.00e+00	1070.00
IUUC-Mmr-061199	Microcebus murinus	71.76	0.00e+00	855.00
IUUC-Mmu-063617	Mus musculus	70.11	0.00e+00	969.00
IUUC-Mpu-066620	Mustela putorius furo	73.32	0.00e+00	972.00
IUUC-Mlu-067415	Myotis lucifugus	70.59	0.00e+00	890.00
IUUC-Nle-069490	Nomascus leucogenys	93.18	0.00e+00	1253.00
IUUC-Ocu-073831	Oryctolagus cuniculus	74.13	0.00e+00	979.00
IUUC-Oga-088746	Otolemur garnettii	75.91	0.00e+00	934.00
IUUC-Oar-089722	Ovis aries	67.96	0.00e+00	842.00
IUUC-Ptr-090981	Pan troglodytes	98.09	0.00e+00	1295.00
IUUC-Pan-092695	Papio anubis	86.12	0.00e+00	1090.00
IUUC-Psi-093354	Pelodiscus sinensis	61.14	0.00e+00	797.00
IUUC-Pab-098055	Pongo abelii	97.27	0.00e+00	1282.00
IUUC-Tni-120650	Tetraodon nigroviridis	52.53	3.00e-123	436.00
IUUC-Ttr-129276	Tursiops truncatus	65.08	1.00e-137	483.00

Created Date

25-Jun-2017

Functional Description

Protein Fasta Sequence

Nucleotide Fasta Sequence