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Protein

Cas scaffolding protein family member 4

Gene

CASS4

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

Functioni

Docking protein that plays a role in tyrosine kinase-based signaling related to cell adhesion and cell spreading. Regulates PTK2/FAK1 activity, focal adhesion integrity, and cell spreading.1 Publication

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Names & Taxonomyi

Protein namesi
Recommended name:
Cas scaffolding protein family member 4
Alternative name(s):
HEF-like protein
HEF1-EFS-p130Cas-like protein
Short name:
HEPL
Gene namesi
Name:CASS4
Synonyms:C20orf32, HEFL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 20

Organism-specific databases

HGNCiHGNC:15878. CASS4.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162381095.

Polymorphism and mutation databases

BioMutaiCASS4.
DMDMi23813906.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 786786Cas scaffolding protein family member 4PRO_0000079425Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei200 – 2001Phosphoserine1 Publication
Modified residuei249 – 2491Phosphoserine1 Publication
Modified residuei305 – 3051Phosphoserine1 Publication

Post-translational modificationi

Phosphorylated on tyrosines by SRC.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9NQ75.
PaxDbiQ9NQ75.
PRIDEiQ9NQ75.

PTM databases

PhosphoSiteiQ9NQ75.

Expressioni

Tissue specificityi

Expressed abundantly in lung and spleen. Also highly expressed in ovarian and leukemia cell lines.1 Publication

Gene expression databases

BgeeiQ9NQ75.
CleanExiHS_CASS4.
GenevisibleiQ9NQ75. HS.

Organism-specific databases

HPAiCAB034206.
CAB034217.
HPA012659.

Interactioni

Subunit structurei

Interacts (via SH3 domain) with PTK2/FAK1 (via C-terminus).1 Publication

Protein-protein interaction databases

BioGridi121359. 1 interaction.
IntActiQ9NQ75. 3 interactions.
STRINGi9606.ENSP00000353462.

Structurei

Secondary structure

1
786
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi14 – 207Combined sources
Beta strandi25 – 295Combined sources
Beta strandi38 – 436Combined sources
Beta strandi51 – 588Combined sources
Beta strandi61 – 644Combined sources
Turni65 – 673Combined sources
Beta strandi68 – 703Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2CRENMR-A14-71[»]
ProteinModelPortaliQ9NQ75.
SMRiQ9NQ75. Positions 13-72, 431-589, 674-786.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9NQ75.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini11 – 7363SH3PROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi274 – 2774Poly-Ser
Compositional biasi373 – 42957Ser-richAdd
BLAST

Sequence similaritiesi

Belongs to the CAS family.Curated
Contains 1 SH3 domain.PROSITE-ProRule annotation

Keywords - Domaini

SH3 domain

Phylogenomic databases

eggNOGiNOG72030.
GeneTreeiENSGT00490000043324.
HOGENOMiHOG000111312.
HOVERGENiHBG107575.
InParanoidiQ9NQ75.
OMAiCSDELAF.
OrthoDBiEOG7QRQTD.
PhylomeDBiQ9NQ75.
TreeFamiTF328782.

Family and domain databases

InterProiIPR021901. CAS_DUF3513.
IPR003661. EnvZ-like_dim/P.
IPR014928. Serine_rich.
IPR001452. SH3_domain.
[Graphical view]
PfamiPF12026. DUF3513. 1 hit.
PF08824. Serine_rich. 1 hit.
PF14604. SH3_9. 1 hit.
[Graphical view]
SMARTiSM00388. HisKA. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view]
SUPFAMiSSF50044. SSF50044. 1 hit.
PROSITEiPS50002. SH3. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Experimental confirmation may be lacking for some isoforms.

Isoform 1 (identifier: Q9NQ75-1) [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
MKGTGIMDCA PKALLARALY DNCPDCSDEL AFSRGDILTI LEQHVPESEG
60 70 80 90 100
WWKCLLHGRQ GLAPANRLQI LTEVAADRPC PPFLRGLEEA PASSEETYQV
110 120 130 140 150
PTLPRPPTPG PVYEQMRSWA EGPQPPTAQV YEFPDPPTSA RIICEKTLSF
160 170 180 190 200
PKQAILTLPR PVRASLPTLP SQVYDVPTQH RGPVVLKEPE KQQLYDIPAS
210 220 230 240 250
PKKAGLHPPD SQASGQGVPL ISVTTLRRGG YSTLPNPQKS EWIYDTPVSP
260 270 280 290 300
GKASVRNTPL TSFAEESRPH ALPSSSSTFY NPPSGRSRSL TPQLNNNVPM
310 320 330 340 350
QKKLSLPEIP SYGFLVPRGT FPLDEDVSYK VPSSFLIPRV EQQNTKPNIY
360 370 380 390 400
DIPKATSSVS QAGKELEKAK EVSENSAGHN SSWFSRRTTS PSPEPDRLSG
410 420 430 440 450
SSSDSRASIV SSCSTTSTDD SSSSSSEESA KELSLDLDVA KETVMALQHK
460 470 480 490 500
VVSSVAGLML FVSRKWRFRD YLEANIDAIH RSTDHIEESV REFLDFARGV
510 520 530 540 550
HGTACNLTDS NLQNRIRDQM QTISNSYRIL LETKESLDNR NWPLEVLVTD
560 570 580 590 600
SVQNSPDDLE RFVMVARMLP EDIKRFASIV IANGRLLFKR NCEKEETVQL
610 620 630 640 650
TPNAEFKCEK YIQPPQRETE SHQKSTPSTK QREDEHSSEL LKKNRANICG
660 670 680 690 700
QNPGPLIPQP SSQQTPERKP RLSEHCRLYF GALFKAISAF HGSLSSSQPA
710 720 730 740 750
EIITQSKLVI MVGQKLVDTL CMETQERDVR NEILRGSSHL CSLLKDVALA
760 770 780
TKNAVLTYPS PAALGHLQAE AEKLEQHTRQ FRGTLG
Length:786
Mass (Da):87,144
Last modified:October 10, 2002 - v2
Checksum:i0E84CD7F60A361DB
GO
Isoform 2 (identifier: Q9NQ75-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     652-786: NPGPLIPQPS...HTRQFRGTLG → VSSEFQVIEKGASIVTWSSGY

Note: No experimental confirmation available.
Show »
Length:672
Mass (Da):74,587
Checksum:i9100A597C52C415F
GO
Isoform 3 (identifier: Q9NQ75-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     215-651: Missing.

Note: No experimental confirmation available.
Show »
Length:349
Mass (Da):38,346
Checksum:i0DC83EBD13CF6839
GO

Sequence cautioni

The sequence CAC00655.1 differs from that shown. Reason: Frameshift at positions 336 and 342. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti329 – 3291Y → N in CAC00655 (Ref. 1) Curated
Sequence conflicti350 – 3501Missing in CAC00655 (Ref. 1) Curated
Sequence conflicti488 – 4881E → A in CAC00655 (Ref. 1) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti491 – 4911R → K.
Corresponds to variant rs16979936 [ dbSNP | Ensembl ].
VAR_054084
Natural varianti629 – 6291T → N.
Corresponds to variant rs6069755 [ dbSNP | Ensembl ].
VAR_054085
Natural varianti660 – 6601P → S.1 Publication
Corresponds to variant rs35031530 [ dbSNP | Ensembl ].
VAR_054086
Natural varianti780 – 7801Q → H.
Corresponds to variant rs7272702 [ dbSNP | Ensembl ].
VAR_054087

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei215 – 651437Missing in isoform 3. 1 PublicationVSP_003806Add
BLAST
Alternative sequencei652 – 786135NPGPL…RGTLG → VSSEFQVIEKGASIVTWSSG Y in isoform 2. 1 PublicationVSP_003807Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ276678 mRNA. Translation: CAC00655.1. Frameshift.
AK027760 mRNA. Translation: BAB55351.1.
AL121914 Genomic DNA. Translation: CAC12719.2.
AL121914 Genomic DNA. Translation: CAI19330.1.
CH471077 Genomic DNA. Translation: EAW75546.1.
CH471077 Genomic DNA. Translation: EAW75547.1.
BC027951 mRNA. Translation: AAH27951.1.
CCDSiCCDS33492.1. [Q9NQ75-1]
CCDS54475.1. [Q9NQ75-3]
RefSeqiNP_001157586.1. NM_001164114.1.
NP_001157587.1. NM_001164115.1. [Q9NQ75-3]
NP_001157588.1. NM_001164116.1. [Q9NQ75-1]
NP_065089.2. NM_020356.3. [Q9NQ75-1]
UniGeneiHs.473144.

Genome annotation databases

EnsembliENST00000360314; ENSP00000353462; ENSG00000087589.
ENST00000434344; ENSP00000410027; ENSG00000087589. [Q9NQ75-3]
GeneIDi57091.
KEGGihsa:57091.
UCSCiuc002xxp.2. human. [Q9NQ75-1]
uc002xxq.4. human. [Q9NQ75-2]
uc010gio.2. human. [Q9NQ75-3]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ276678 mRNA. Translation: CAC00655.1. Frameshift.
AK027760 mRNA. Translation: BAB55351.1.
AL121914 Genomic DNA. Translation: CAC12719.2.
AL121914 Genomic DNA. Translation: CAI19330.1.
CH471077 Genomic DNA. Translation: EAW75546.1.
CH471077 Genomic DNA. Translation: EAW75547.1.
BC027951 mRNA. Translation: AAH27951.1.
CCDSiCCDS33492.1. [Q9NQ75-1]
CCDS54475.1. [Q9NQ75-3]
RefSeqiNP_001157586.1. NM_001164114.1.
NP_001157587.1. NM_001164115.1. [Q9NQ75-3]
NP_001157588.1. NM_001164116.1. [Q9NQ75-1]
NP_065089.2. NM_020356.3. [Q9NQ75-1]
UniGeneiHs.473144.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2CRENMR-A14-71[»]
ProteinModelPortaliQ9NQ75.
SMRiQ9NQ75. Positions 13-72, 431-589, 674-786.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121359. 1 interaction.
IntActiQ9NQ75. 3 interactions.
STRINGi9606.ENSP00000353462.

PTM databases

PhosphoSiteiQ9NQ75.

Polymorphism and mutation databases

BioMutaiCASS4.
DMDMi23813906.

Proteomic databases

MaxQBiQ9NQ75.
PaxDbiQ9NQ75.
PRIDEiQ9NQ75.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000360314; ENSP00000353462; ENSG00000087589.
ENST00000434344; ENSP00000410027; ENSG00000087589. [Q9NQ75-3]
GeneIDi57091.
KEGGihsa:57091.
UCSCiuc002xxp.2. human. [Q9NQ75-1]
uc002xxq.4. human. [Q9NQ75-2]
uc010gio.2. human. [Q9NQ75-3]

Organism-specific databases

CTDi57091.
GeneCardsiGC20P054987.
H-InvDBHIX0015932.
HGNCiHGNC:15878. CASS4.
HPAiCAB034206.
CAB034217.
HPA012659.
neXtProtiNX_Q9NQ75.
PharmGKBiPA162381095.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG72030.
GeneTreeiENSGT00490000043324.
HOGENOMiHOG000111312.
HOVERGENiHBG107575.
InParanoidiQ9NQ75.
OMAiCSDELAF.
OrthoDBiEOG7QRQTD.
PhylomeDBiQ9NQ75.
TreeFamiTF328782.

Miscellaneous databases

ChiTaRSiCASS4. human.
EvolutionaryTraceiQ9NQ75.
GenomeRNAii57091.
NextBioi62895.
PROiQ9NQ75.

Gene expression databases

BgeeiQ9NQ75.
CleanExiHS_CASS4.
GenevisibleiQ9NQ75. HS.

Family and domain databases

InterProiIPR021901. CAS_DUF3513.
IPR003661. EnvZ-like_dim/P.
IPR014928. Serine_rich.
IPR001452. SH3_domain.
[Graphical view]
PfamiPF12026. DUF3513. 1 hit.
PF08824. Serine_rich. 1 hit.
PF14604. SH3_9. 1 hit.
[Graphical view]
SMARTiSM00388. HisKA. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view]
SUPFAMiSSF50044. SSF50044. 1 hit.
PROSITEiPS50002. SH3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "HEF-like protein (HEFL) is involved in integrin signalling."
    Jahn T., Will T., Bresolin G., Coutinho S., Peschel C., Duyster J.
    Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT SER-660.
    Tissue: Placenta.
  3. "The DNA sequence and comparative analysis of human chromosome 20."
    Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
    , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
    Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
  6. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-200; SER-249 AND SER-305, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Platelet.
  7. Cited for: FUNCTION, INTERACTION WITH PTK2/FAK1, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, PHOSPHORYLATION BY SRC.
  8. "Solution structure of RSGI RUH-036, an SH3 domain from human."
    RIKEN structural genomics initiative (RSGI)
    Submitted (NOV-2005) to the PDB data bank
    Cited for: STRUCTURE BY NMR OF 14-71.

Entry informationi

Entry nameiCASS4_HUMAN
AccessioniPrimary (citable) accession number: Q9NQ75
Secondary accession number(s): E1P5Z8
, Q5QPD6, Q96K09, Q9BYL5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: October 10, 2002
Last modified: July 22, 2015
This is version 133 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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 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.