Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q9NQ75 (CASS4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 125. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Cas scaffolding protein family member 4
Alternative name(s):
HEF-like protein
HEF1-EFS-p130Cas-like protein
Short name=HEPL
Gene names
Name:CASS4
Synonyms:C20orf32, HEFL
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length786 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.7

Subunit structure

Interacts (via SH3 domain) with PTK2/FAK1 (via C-terminus). Ref.7

Subcellular location

Cytoplasmcytoskeleton. Cell junctionfocal adhesion Ref.7.

Tissue specificity

Expressed abundantly in lung and spleen. Also highly expressed in ovarian and leukemia cell lines. Ref.7

Post-translational modification

Phosphorylated on tyrosines by SRC. Ref.7

Sequence similarities

Belongs to the CAS family.

Contains 1 SH3 domain.

Sequence caution

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

Ontologies

Keywords
   Biological processCell adhesion
   Cellular componentCell junction
Cytoplasm
Cytoskeleton
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainSH3 domain
   PTMPhosphoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcell adhesion

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentcytoplasm

Inferred from electronic annotation. Source: UniProtKB-KW

cytoskeleton

Inferred from electronic annotation. Source: UniProtKB-SubCell

focal adhesion

Inferred from electronic annotation. Source: UniProtKB-SubCell

membrane

Inferred from electronic annotation. Source: InterPro

   Molecular_functionphosphorelay sensor kinase activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Note: Experimental confirmation may be lacking for some isoforms.
Isoform 1 (identifier: Q9NQ75-1)

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.
Isoform 2 (identifier: Q9NQ75-2)

The sequence of this isoform differs from the canonical sequence as follows:
     652-786: NPGPLIPQPS...HTRQFRGTLG → VSSEFQVIEKGASIVTWSSGY
Note: No experimental confirmation available.
Isoform 3 (identifier: Q9NQ75-3)

The sequence of this isoform differs from the canonical sequence as follows:
     215-651: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 786786Cas scaffolding protein family member 4
PRO_0000079425

Regions

Domain11 – 7363SH3
Compositional bias274 – 2774Poly-Ser
Compositional bias373 – 42957Ser-rich

Amino acid modifications

Modified residue2001Phosphoserine Ref.6
Modified residue2491Phosphoserine Ref.6
Modified residue3051Phosphoserine Ref.6

Natural variations

Alternative sequence215 – 651437Missing in isoform 3.
VSP_003806
Alternative sequence652 – 786135NPGPL…RGTLG → VSSEFQVIEKGASIVTWSSG Y in isoform 2.
VSP_003807
Natural variant4911R → K.
Corresponds to variant rs16979936 [ dbSNP | Ensembl ].
VAR_054084
Natural variant6291T → N.
Corresponds to variant rs6069755 [ dbSNP | Ensembl ].
VAR_054085
Natural variant6601P → S. Ref.2
Corresponds to variant rs35031530 [ dbSNP | Ensembl ].
VAR_054086
Natural variant7801Q → H.
Corresponds to variant rs7272702 [ dbSNP | Ensembl ].
VAR_054087

Experimental info

Sequence conflict3291Y → N in CAC00655. Ref.1
Sequence conflict3501Missing in CAC00655. Ref.1
Sequence conflict4881E → A in CAC00655. Ref.1

Secondary structure

............. 786
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 10, 2002. Version 2.
Checksum: 0E84CD7F60A361DB

FASTA78687,144
        10         20         30         40         50         60 
MKGTGIMDCA PKALLARALY DNCPDCSDEL AFSRGDILTI LEQHVPESEG WWKCLLHGRQ 

        70         80         90        100        110        120 
GLAPANRLQI LTEVAADRPC PPFLRGLEEA PASSEETYQV PTLPRPPTPG PVYEQMRSWA 

       130        140        150        160        170        180 
EGPQPPTAQV YEFPDPPTSA RIICEKTLSF PKQAILTLPR PVRASLPTLP SQVYDVPTQH 

       190        200        210        220        230        240 
RGPVVLKEPE KQQLYDIPAS PKKAGLHPPD SQASGQGVPL ISVTTLRRGG YSTLPNPQKS 

       250        260        270        280        290        300 
EWIYDTPVSP GKASVRNTPL TSFAEESRPH ALPSSSSTFY NPPSGRSRSL TPQLNNNVPM 

       310        320        330        340        350        360 
QKKLSLPEIP SYGFLVPRGT FPLDEDVSYK VPSSFLIPRV EQQNTKPNIY DIPKATSSVS 

       370        380        390        400        410        420 
QAGKELEKAK EVSENSAGHN SSWFSRRTTS PSPEPDRLSG SSSDSRASIV SSCSTTSTDD 

       430        440        450        460        470        480 
SSSSSSEESA KELSLDLDVA KETVMALQHK VVSSVAGLML FVSRKWRFRD YLEANIDAIH 

       490        500        510        520        530        540 
RSTDHIEESV REFLDFARGV HGTACNLTDS NLQNRIRDQM QTISNSYRIL LETKESLDNR 

       550        560        570        580        590        600 
NWPLEVLVTD SVQNSPDDLE RFVMVARMLP EDIKRFASIV IANGRLLFKR NCEKEETVQL 

       610        620        630        640        650        660 
TPNAEFKCEK YIQPPQRETE SHQKSTPSTK QREDEHSSEL LKKNRANICG QNPGPLIPQP 

       670        680        690        700        710        720 
SSQQTPERKP RLSEHCRLYF GALFKAISAF HGSLSSSQPA EIITQSKLVI MVGQKLVDTL 

       730        740        750        760        770        780 
CMETQERDVR NEILRGSSHL CSLLKDVALA TKNAVLTYPS PAALGHLQAE AEKLEQHTRQ 


FRGTLG 

« Hide

Isoform 2 [UniParc].

Checksum: 9100A597C52C415F
Show »

FASTA67274,587
Isoform 3 [UniParc].

Checksum: 0DC83EBD13CF6839
Show »

FASTA34938,346

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"Phosphoproteome of resting human platelets."
Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A.
J. Proteome Res. 7:526-534(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-200; SER-249 AND SER-305, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Platelet.
[7]"A novel Cas family member, HEPL, regulates FAK and cell spreading."
Singh M.K., Dadke D., Nicolas E., Serebriiskii I.G., Apostolou S., Canutescu A., Egleston B.L., Golemis E.A.
Mol. Biol. Cell 19:1627-1636(2008) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS33492.1. [Q9NQ75-1]
CCDS54475.1. [Q9NQ75-3]
RefSeqNP_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]
UniGeneHs.473144.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2CRENMR-A14-71[»]
ProteinModelPortalQ9NQ75.
SMRQ9NQ75. Positions 13-72, 431-589, 674-786.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121359. 1 interaction.
IntActQ9NQ75. 2 interactions.
STRING9606.ENSP00000353462.

PTM databases

PhosphoSiteQ9NQ75.

Polymorphism databases

DMDM23813906.

Proteomic databases

MaxQBQ9NQ75.
PaxDbQ9NQ75.
PRIDEQ9NQ75.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000360314; ENSP00000353462; ENSG00000087589. [Q9NQ75-1]
ENST00000371336; ENSP00000360387; ENSG00000087589. [Q9NQ75-1]
ENST00000434344; ENSP00000410027; ENSG00000087589. [Q9NQ75-3]
GeneID57091.
KEGGhsa:57091.
UCSCuc002xxp.2. human. [Q9NQ75-1]
uc002xxq.4. human. [Q9NQ75-2]
uc010gio.2. human. [Q9NQ75-3]

Organism-specific databases

CTD57091.
GeneCardsGC20P054987.
H-InvDBHIX0015932.
HGNCHGNC:15878. CASS4.
HPAHPA012659.
neXtProtNX_Q9NQ75.
PharmGKBPA162381095.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG72030.
HOGENOMHOG000111312.
HOVERGENHBG107575.
InParanoidQ9NQ75.
OMACSDELAF.
OrthoDBEOG7QRQTD.
PhylomeDBQ9NQ75.
TreeFamTF328782.

Gene expression databases

BgeeQ9NQ75.
CleanExHS_CASS4.
GenevestigatorQ9NQ75.

Family and domain databases

InterProIPR021901. CAS_DUF3513.
IPR003661. EnvZ-like_dim/P.
IPR014928. Serine_rich.
IPR001452. SH3_domain.
[Graphical view]
PfamPF12026. DUF3513. 1 hit.
PF08824. Serine_rich. 1 hit.
PF14604. SH3_9. 1 hit.
[Graphical view]
SMARTSM00388. HisKA. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view]
SUPFAMSSF50044. SSF50044. 1 hit.
PROSITEPS50002. SH3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceQ9NQ75.
GenomeRNAi57091.
NextBio62895.
PROQ9NQ75.

Entry information

Entry nameCASS4_HUMAN
AccessionPrimary (citable) accession number: Q9NQ75
Secondary accession number(s): E1P5Z8 expand/collapse secondary AC list , Q5QPD6, Q96K09, Q9BYL5
Entry history
Integrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: October 10, 2002
Last modified: July 9, 2014
This is version 125 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 20

Human chromosome 20: entries, gene names and cross-references to MIM