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Protein

Protein CASC4

Gene

CASC4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Protein CASC4
Alternative name(s):
Cancer susceptibility candidate gene 4 protein
Gene namesi
Name:CASC4
ORF Names:UNQ2573/PRO6308
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000166734.18
HGNCiHGNC:24892 CASC4
neXtProtiNX_Q6P4E1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 14CytoplasmicSequence analysisAdd BLAST14
Transmembranei15 – 35Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini36 – 433LumenalSequence analysisAdd BLAST398

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi113201
OpenTargetsiENSG00000166734
PharmGKBiPA142672200

Polymorphism and mutation databases

BioMutaiCASC4
DMDMi74737334

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002918431 – 433Protein CASC4Add BLAST433

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1 Publication1
Modified residuei233PhosphoserineCombined sources1
Modified residuei275PhosphoserineCombined sources1
Modified residuei328PhosphoserineCombined sources1
Modified residuei332PhosphoserineCombined sources1
Modified residuei366PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ6P4E1
MaxQBiQ6P4E1
PaxDbiQ6P4E1
PeptideAtlasiQ6P4E1
PRIDEiQ6P4E1
ProteomicsDBi66963
66964 [Q6P4E1-2]
66965 [Q6P4E1-3]

PTM databases

iPTMnetiQ6P4E1
PhosphoSitePlusiQ6P4E1

Expressioni

Gene expression databases

BgeeiENSG00000166734
CleanExiHS_CASC4
ExpressionAtlasiQ6P4E1 baseline and differential
GenevisibleiQ6P4E1 HS

Organism-specific databases

HPAiHPA043015
HPA049488

Interactioni

Protein-protein interaction databases

BioGridi125233, 9 interactors
STRINGi9606.ENSP00000299957

Structurei

3D structure databases

ProteinModelPortaliQ6P4E1
SMRiQ6P4E1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili35 – 198Sequence analysisAdd BLAST164

Sequence similaritiesi

Belongs to the GOLM1/CASC4 family.Curated

Keywords - Domaini

Coiled coil, Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IHYU Eukaryota
ENOG4111SUN LUCA
GeneTreeiENSGT00530000063675
HOGENOMiHOG000111308
HOVERGENiHBG057061
InParanoidiQ6P4E1
OMAiAFNYWSI
OrthoDBiEOG091G07WP
PhylomeDBiQ6P4E1
TreeFamiTF331127

Family and domain databases

InterProiView protein in InterPro
IPR026141 CASC4
IPR026139 GOLM1/CASC4
PANTHERiPTHR15896 PTHR15896, 1 hit
PTHR15896:SF7 PTHR15896:SF7, 1 hit
PRINTSiPR02084 GOLM1CASC4

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6P4E1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MVGFGANRRA GRLPSLVLVV LLVVIVVLAF NYWSISSRHV LLQEEVAELQ
60 70 80 90 100
GQVQRTEVAR GRLEKRNSDL LLLVDTHKKQ IDQKEADYGR LSSRLQAREG
110 120 130 140 150
LGKRCEDDKV KLQNNISYQM ADIHHLKEQL AELRQEFLRQ EDQLQDYRKN
160 170 180 190 200
NTYLVKRLEY ESFQCGQQMK ELRAQHEENI KKLADQFLEE QKQETQKIQS
210 220 230 240 250
NDGKELDINN QVVPKNIPKV AENVADKNEE PSSNHIPHGK EQIKRGGDAG
260 270 280 290 300
MPGIEENDLA KVDDLPPALR KPPISVSQHE SHQAISHLPT GQPLSPNMPP
310 320 330 340 350
DSHINHNGNP GTSKQNPSSP LQRLIPGSNL DSEPRIQTDI LKQATKDRVS
360 370 380 390 400
DFHKLKQSRF FDENESPVDP QHGSKLADYN GDDGNVGEYE ADKQAELAYN
410 420 430
EEEDGDGGEE DVQGERGPGL HAITMKPTSK FFG
Length:433
Mass (Da):48,864
Last modified:July 5, 2004 - v1
Checksum:i3895383DC2D3F106
GO
Isoform 2 (identifier: Q6P4E1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     358-381: SRFFDENESPVDPQHGSKLADYNG → NDEERELQMDPADYGKQHFNDVL
     382-433: Missing.

Show »
Length:380
Mass (Da):43,333
Checksum:iB99B88414F734501
GO
Isoform 3 (identifier: Q6P4E1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     163-177: FQCGQQMKELRAQHE → KRPKRFNQMMERNWI
     178-433: Missing.

Note: No experimental confirmation available.
Show »
Length:177
Mass (Da):20,934
Checksum:iDF8452919A90949A
GO
Isoform 4 (identifier: Q6P4E1-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     414-433: GERGPGLHAITMKPTSKFFG → DDEERELQMDPADYGKQHFNDVL

Note: No experimental confirmation available.Curated
Show »
Length:436
Mass (Da):49,498
Checksum:iE11DABFDD27CF70A
GO
Isoform 5 (identifier: Q6P4E1-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-22: MVGFGANRRAGRLPSLVLVVLL → M
     414-433: GERGPGLHAITMKPTSKFFG → DDEERELQMDPADYGKQHFNDVL

Note: No experimental confirmation available.
Show »
Length:415
Mass (Da):47,308
Checksum:i0E65E3642D8E6316
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Isoform 4 (identifier: Q6P4E1-4)
Sequence conflicti429K → E in AL832333 (PubMed:17974005).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0552281 – 22MVGFG…LVVLL → M in isoform 5. 1 PublicationAdd BLAST22
Alternative sequenceiVSP_026259163 – 177FQCGQ…RAQHE → KRPKRFNQMMERNWI in isoform 3. 1 PublicationAdd BLAST15
Alternative sequenceiVSP_026260178 – 433Missing in isoform 3. 1 PublicationAdd BLAST256
Alternative sequenceiVSP_026261358 – 381SRFFD…ADYNG → NDEERELQMDPADYGKQHFN DVL in isoform 2. 1 PublicationAdd BLAST24
Alternative sequenceiVSP_026262382 – 433Missing in isoform 2. 1 PublicationAdd BLAST52
Alternative sequenceiVSP_045243414 – 433GERGP…SKFFG → DDEERELQMDPADYGKQHFN DVL in isoform 4 and isoform 5. 2 PublicationsAdd BLAST20

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358086 mRNA Translation: AAQ88453.1
AK298564 mRNA Translation: BAG60758.1
AL832333 mRNA No translation available.
AC025043 Genomic DNA No translation available.
AC090519 Genomic DNA No translation available.
CH471082 Genomic DNA Translation: EAW77258.1
BC012124 mRNA Translation: AAH12124.1
BC063480 mRNA Translation: AAH63480.1
CCDSiCCDS10108.1 [Q6P4E1-4]
CCDS10109.1 [Q6P4E1-2]
RefSeqiNP_612432.2, NM_138423.3 [Q6P4E1-4]
NP_816929.1, NM_177974.2 [Q6P4E1-2]
UniGeneiHs.512867

Genome annotation databases

EnsembliENST00000299957; ENSP00000299957; ENSG00000166734 [Q6P4E1-4]
ENST00000345795; ENSP00000335063; ENSG00000166734 [Q6P4E1-2]
ENST00000557945; ENSP00000453720; ENSG00000166734 [Q6P4E1-3]
GeneIDi113201
KEGGihsa:113201
UCSCiuc001ztp.4 human [Q6P4E1-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiCASC4_HUMAN
AccessioniPrimary (citable) accession number: Q6P4E1
Secondary accession number(s): B4DPZ6
, G5E934, Q6UY45, Q96EM1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: July 5, 2004
Last modified: June 20, 2018
This is version 105 of the entry and version 1 of the sequence. See 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

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