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Protein

Serine-rich coiled-coil domain-containing protein 2

Gene

CCSER2

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

Functioni

GO - Molecular functioni

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Serine-rich coiled-coil domain-containing protein 2
Alternative name(s):
Coiled-coil serine-rich protein 2
Protein GCAP14 homolog
Gene namesi
Name:CCSER2
Synonyms:FAM190B, KIAA1128
ORF Names:NPD012
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000107771.15
HGNCiHGNC:29197 CCSER2
neXtProtiNX_Q9H7U1

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

Pathology & Biotechi

Organism-specific databases

DisGeNETi54462
OpenTargetsiENSG00000107771
PharmGKBiPA165548597

Polymorphism and mutation databases

BioMutaiCCSER2
DMDMi160386966

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003094611 – 834Serine-rich coiled-coil domain-containing protein 2Add BLAST834

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei223PhosphoserineCombined sources1
Modified residuei452PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9H7U1
MaxQBiQ9H7U1
PaxDbiQ9H7U1
PeptideAtlasiQ9H7U1
PRIDEiQ9H7U1

PTM databases

iPTMnetiQ9H7U1
PhosphoSitePlusiQ9H7U1

Expressioni

Gene expression databases

BgeeiENSG00000107771
CleanExiHS_KIAA1128
GenevisibleiQ9H7U1 HS

Organism-specific databases

HPAiHPA037481
HPA037482

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi119968, 19 interactors
IntActiQ9H7U1, 18 interactors
MINTiQ9H7U1

Structurei

3D structure databases

ProteinModelPortaliQ9H7U1
SMRiQ9H7U1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili712 – 749Sequence analysisAdd BLAST38

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi604 – 616His-richAdd BLAST13

Sequence similaritiesi

Belongs to the CCSER family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IGH2 Eukaryota
ENOG410XT5P LUCA
GeneTreeiENSGT00730000111195
InParanoidiQ9H7U1
OMAiRMVHPSL
OrthoDBiEOG091G0TIG
PhylomeDBiQ9H7U1
TreeFamiTF331021

Family and domain databases

InterProiView protein in InterPro
IPR029627 CCSER
IPR029629 CCSER2
PANTHERiPTHR22461 PTHR22461, 1 hit
PTHR22461:SF2 PTHR22461:SF2, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H7U1-1) [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
MEEKTQIKTF LGSKLPKYGT KSVRSTLQPM PNGTPVNLLG TSKNSNVKSY
60 70 80 90 100
IKNNGSDCPS SHSFNWRKAN KYQLCAQGVE EPNNTQNSHD KIIDPEKRVP
110 120 130 140 150
TQGMFDKNGI KGGLKSVSLF TSKLAKPSTM FVSSTEELNQ KSFSGPSNLG
160 170 180 190 200
KFTKGTLLGR TSYSSINTPK SQLNGFYGNR SAGSMQRPRA NSCATRSSSG
210 220 230 240 250
ESLAQSPDSS KSINCEKMVR SQSFSHSIQN SFLPPSSITR SHSFNRAVDL
260 270 280 290 300
TKPYQNQQLS IRVPLRSSML TRNSRQPEVL NGNEHLGYGF NRPYAAGGKK
310 320 330 340 350
LALPNGPGVT STLGYRMVHP SLLKSSRSPF SGTMTVDGNK NSPADTCVEE
360 370 380 390 400
DATVLAKDRA ANKDQELIEN ESYRTKNNQT MKHDAKMRYL SDDVDDISLS
410 420 430 440 450
SLSSSDKNDL SEDFSDDFID IEDSNRTRIT PEEMSLKEEK HENGPPQDMF
460 470 480 490 500
DSPKENEKAF SKTDEWIDIS VSDRSECTKH TSGNNLVSPD TDYRAGSSFE
510 520 530 540 550
LSPSDSSDGT YMWDEEGLEP IGNVHPVGSY ESSEMNSIDI LNNLESCDLE
560 570 580 590 600
DDDLMLDVDL PEDAPLENVE CDNMNRFDRP DRNVRQPQEG FWKRPPQRWS
610 620 630 640 650
GQEHYHLSHP DHYHHHGKSD LSRGSPYRES PLGHFESYGG MPFFQAQKMF
660 670 680 690 700
VDVPENTVIL DEMTLRHMVQ DCTAVKTQLL KLKRLLHQHD GSGSLHDIQL
710 720 730 740 750
SLPSSPEPED GDKVYKNEDL LNEIKQLKDE IKKKDEKIQL LELQLATQHI
760 770 780 790 800
CHQKCKEEKC TYADKYTQTP WRRIPGGYSA PSFSPWQGSF QGIPRTVPPH
810 820 830
RRQTSSTTAF QQPSQTHRSH PGKTNKATTY RGPQ
Length:834
Mass (Da):93,548
Last modified:November 13, 2007 - v2
Checksum:i036713F1975242A3
GO
Isoform 2 (identifier: Q9H7U1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     539-567: DILNNLESCDLEDDDLMLDVDLPEDAPLE → VCMDLYTLGIFCLPYYRETCDMIDFVKNL
     568-834: Missing.

Show »
Length:567
Mass (Da):62,760
Checksum:i5326DD577A85F838
GO
Isoform 3 (identifier: Q9H7U1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     776-834: GGYSAPSFSP...NKATTYRGPQ → PQVLQPSSSL...YSRLPKPKIH

Show »
Length:1,047
Mass (Da):116,913
Checksum:iE7C0A74671809440
GO
Isoform 4 (identifier: Q9H7U1-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-573: Missing.

Note: No experimental confirmation available.
Show »
Length:261
Mass (Da):30,337
Checksum:i2AFAD6F347B4F273
GO

Sequence cautioni

The sequence AAG44473 differs from that shown. Reason: Frameshift at positions 187, 240 and 244.Curated
The sequence AAH30528 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAI40902 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti155G → C in AAG44473 (Ref. 5) Curated1
Sequence conflicti215C → Y in BAB14884 (PubMed:15489334).Curated1
Sequence conflicti457E → G in BAB14884 (PubMed:15489334).Curated1
Sequence conflicti524V → A in BAG61061 (PubMed:14702039).Curated1
Sequence conflicti540I → V in BAG61061 (PubMed:14702039).Curated1
Sequence conflicti667H → R in BAG61061 (PubMed:14702039).Curated1
Isoform 3 (identifier: Q9H7U1-3)
Sequence conflicti782S → F in BAG61061 (PubMed:14702039).Curated1
Sequence conflicti881M → I in BAG61061 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03695284N → S. Corresponds to variant dbSNP:rs3814205Ensembl.1
Natural variantiVAR_036953755C → Y. Corresponds to variant dbSNP:rs11201058Ensembl.1
Natural variantiVAR_036954819S → P. Corresponds to variant dbSNP:rs11557865Ensembl.1
Natural variantiVAR_036955821P → S. Corresponds to variant dbSNP:rs12569751Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0545601 – 573Missing in isoform 4. 1 PublicationAdd BLAST573
Alternative sequenceiVSP_029180539 – 567DILNN…DAPLE → VCMDLYTLGIFCLPYYRETC DMIDFVKNL in isoform 2. 1 PublicationAdd BLAST29
Alternative sequenceiVSP_029181568 – 834Missing in isoform 2. 1 PublicationAdd BLAST267
Alternative sequenceiVSP_040287776 – 834GGYSA…YRGPQ → PQVLQPSSSLPRPTDHTQGK LIKPQRIEARSECSIQDMHQ GGAHPEESFTHVLHQESNYG LEEQPFSSGPQLTMDVAKST PSEANLNITVNAQEPYHLAN NQISDMQFIPTSLQTPPESS TVDQAKRVGRNQSPPVGYMS QPKSLQLLKPSILSSLVPPP VSESSPSRTPTCKKSPIITT CNSAKLQPTSSQTNLANNQN LKASKLRPPSGSFKQKQTNS PQLEPQSFQAKTSIPRPLTQ RKEIMQNPNGNLHSGDCLAS NRYSRLPKPKIH in isoform 3. 1 PublicationAdd BLAST59

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK024324 mRNA Translation: BAB14884.1
AK294321 mRNA Translation: BAG57595.1
AK298966 mRNA Translation: BAG61061.1
DC366088 mRNA No translation available.
AL356115, AC074321 Genomic DNA Translation: CAI40902.1 Sequence problems.
CH471142 Genomic DNA Translation: EAW80350.1
CH471142 Genomic DNA Translation: EAW80352.1
BC030528 mRNA Translation: AAH30528.1 Different initiation.
AF241785 mRNA Translation: AAG44473.1 Frameshift.
AB032954 mRNA Translation: BAA86442.1
CCDSiCCDS31235.1 [Q9H7U1-1]
CCDS60582.1 [Q9H7U1-3]
CCDS60583.1 [Q9H7U1-4]
CCDS73159.1 [Q9H7U1-2]
RefSeqiNP_001271169.1, NM_001284240.1 [Q9H7U1-3]
NP_001271170.1, NM_001284241.1 [Q9H7U1-2]
NP_001271171.1, NM_001284242.1
NP_001271172.1, NM_001284243.1 [Q9H7U1-4]
NP_061872.2, NM_018999.3 [Q9H7U1-1]
XP_016871829.1, XM_017016340.1 [Q9H7U1-3]
UniGeneiHs.461988

Genome annotation databases

EnsembliENST00000224756; ENSP00000224756; ENSG00000107771 [Q9H7U1-1]
ENST00000359979; ENSP00000353068; ENSG00000107771 [Q9H7U1-2]
ENST00000372088; ENSP00000361160; ENSG00000107771 [Q9H7U1-3]
ENST00000543283; ENSP00000439944; ENSG00000107771 [Q9H7U1-4]
GeneIDi54462
KEGGihsa:54462
UCSCiuc001kdg.3 human [Q9H7U1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCCSE2_HUMAN
AccessioniPrimary (citable) accession number: Q9H7U1
Secondary accession number(s): B4DFY4
, B4DQU9, B7WPE8, D3DWE2, Q8N6E9, Q9H2S0, Q9ULU1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: November 13, 2007
Last modified: March 28, 2018
This is version 116 of the entry and version 2 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

Documents

  1. Human chromosome 10
    Human chromosome 10: 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

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