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Protein

Coiled-coil domain-containing protein 180

Gene

CCDC180

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil domain-containing protein 180
Gene namesi
Name:CCDC180
Synonyms:C9orf174, KIAA1529
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:29303. CCDC180.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei35 – 5723HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA165585576.

Polymorphism and mutation databases

BioMutaiCCDC180.
DMDMi166218818.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 16461646Coiled-coil domain-containing protein 180PRO_0000315233Add
BLAST

Proteomic databases

MaxQBiQ9P1Z9.
PaxDbiQ9P1Z9.
PeptideAtlasiQ9P1Z9.
PRIDEiQ9P1Z9.

PTM databases

iPTMnetiQ9P1Z9.
PhosphoSiteiQ9P1Z9.

Expressioni

Gene expression databases

BgeeiENSG00000197816.
CleanExiHS_KIAA1529.
GenevisibleiQ9P1Z9. HS.

Interactioni

Protein-protein interaction databases

IntActiQ9P1Z9. 21 interactions.
STRINGi9606.ENSP00000364348.

Structurei

3D structure databases

ProteinModelPortaliQ9P1Z9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili270 – 33970Sequence analysisAdd
BLAST
Coiled coili1420 – 148768Sequence analysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi834 – 958125Glu-richAdd
BLAST

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IG2N. Eukaryota.
ENOG41100NC. LUCA.
GeneTreeiENSGT00510000048985.
HOVERGENiHBG097391.
InParanoidiQ9P1Z9.
OMAiDMEHIFL.
OrthoDBiEOG091G00O0.
PhylomeDBiQ9P1Z9.
TreeFamiTF329281.

Family and domain databases

InterProiIPR026701. CCDC180.
IPR028089. DUF4455.
IPR027914. DUF4456.
[Graphical view]
PANTHERiPTHR21444:SF14. PTHR21444:SF14. 1 hit.
PfamiPF14643. DUF4455. 1 hit.
PF14644. DUF4456. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9P1Z9-1) [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
MWHGNHVQPG ATHRPNQGLE MLQGLGIGMK AFHNFNYFLF FYNVLLGLGA
60 70 80 90 100
CLSRLLISCL LGMWLIARID RTIMQSGYEG ADMGFSAWIG MLYMDHYHIN
110 120 130 140 150
PVLVSFCHIL ITNHREKKLQ QSTKYWCLNQ SAESLRICAM RGGENRPPAR
160 170 180 190 200
VQSSSEELEL RHQSLDAFPG RRLPGRGIQP AAKMSSVGKV TQVPNGKAYQ
210 220 230 240 250
QIFQAEVQLV HSLAATRKRA AERSVTLKSG RIPMMKKVET PEGEVMSPRQ
260 270 280 290 300
QKWMHSLPND WIMENPVLHR EKERAKREKA RESENTIAAR EVRGLMDTIV
310 320 330 340 350
PEKISTSTFQ RQAEHKRKSY ESALASFQEE IAQVGKEMEP LIVDTGGLFL
360 370 380 390 400
KKLTESDEEM NRLFLKVEND TNLEDYTIQA LLELWDKVAG RLLLRKQEIK
410 420 430 440 450
ELDEALHSLE FSRTDKLKSV LKKYAEVIEK TSYLMRPEVY RLINEEAMVM
460 470 480 490 500
NYALLGNRKA LAQLFVNLME STLQQELDSR HRWQGLVDTW KALKKEALLQ
510 520 530 540 550
SFSEFMASES IHTPPAVTKE LEVMLKTQNV LQQRRLKHLC TICDLLPPSY
560 570 580 590 600
SKTQLTEWHS SLNSLNKELD TYHVDCMMRI RLLYEKTWQE CLMHVQNCKK
610 620 630 640 650
QLLDWKAFTE EEAETLVNQF FFQMVGALQG KVEEDLELLD KSFETLADQT
660 670 680 690 700
EWQSSHLFKY FQEVVQLWEA HQSELLVQEL ELEKRMEQHR QKHSLESQVQ
710 720 730 740 750
EAHLDRLLDQ LRQQSDKETL AFHLEKVKDY LKNMKSRYEC FHTLLTKEVM
760 770 780 790 800
EYPAIMLKEL NSYSSALSQY FFVREIFEQN LAGEVIFKFR QPEAHEKPSQ
810 820 830 840 850
KRVKKLRKKQ GSKEDMTRSE ESISSGTSTA RSVEEVEEEN DQEMESFITE
860 870 880 890 900
EVLGQQKKSP LHAKMDESKE GSIQGLEEMQ VEREGSLNPS LNEENVKGQG
910 920 930 940 950
EKKEESEEED EKEEEEEEEK LEEEKEEKEA QEEQESLSVG EEEDKEEGLE
960 970 980 990 1000
EIYYEDMESF TISSGNTYFV FVPLEEEHCR KSHSTFSAMF INDTSSAKFI
1010 1020 1030 1040 1050
EQVTIPSRLI LEIKKQLFSE GGNFSPKEIN SLCSRLEKEA ARIELVESVI
1060 1070 1080 1090 1100
MLNMEKLENE YLDQANDVIN KFESKFHNLS VDLIFIEKIQ RLLTNLQVKI
1110 1120 1130 1140 1150
KCQVAKSNSQ TNGLNFSLQQ LQNKIKTCQE SRGEKTTVTT EELLSFVQTW
1160 1170 1180 1190 1200
KEKLSQRIQY LNCSLDRVSM TELVFTNTIL KDQEEDSDIL TSSEALEEEA
1210 1220 1230 1240 1250
KLDVVTPESF TQLSRVGKPL IEDPAVDVIR KLLQLPNTKW PTHHCDKDPS
1260 1270 1280 1290 1300
QTGFKRHRCQ PENSGKKAVP SASATSAGSL QTTHPPLSHS FTPHPKPNKM
1310 1320 1330 1340 1350
ERKYRVLGDK PPPAAEDFKG IILTLLWESS ENLLTVAEEF YRKEKRPVTR
1360 1370 1380 1390 1400
PDCMCDTFDQ CAENISKKIL EYQSQANKYH NSCLIELRIQ IRRFEELLPQ
1410 1420 1430 1440 1450
VCWLVMENFK EHHWKKFFTS VKEIRGQFEE QQKRLEKRKD KNAQKLHLNL
1460 1470 1480 1490 1500
GHPVHFQEME SLHLSEEERQ EELDSMIRMN KEKLEECTRR NGQVFITNLA
1510 1520 1530 1540 1550
TFTEKFLLQL DEVVTIDDVQ VARMEPPKQK LSMLIRRKLA GLSLKEESEK
1560 1570 1580 1590 1600
PLIERGSRKW PGIKPTEVTI QNKILLQPTS SISTTKTTLG HLAAVEARDA
1610 1620 1630 1640
VYLKYLASFE EELKRIQDDC TSQIKEAQRW KDSWKQSLHT IQGLYV
Length:1,646
Mass (Da):191,100
Last modified:January 15, 2008 - v2
Checksum:i6A8AF5761D522615
GO
Isoform 2 (identifier: Q9P1Z9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-139: Missing.
     1016-1016: Q → QLRAGFFEHL...SNIEFIKHCR
     1252-1252: T → TGRGAWACGSRGSSEAGAGGAVCSPPVLCSCPGPSSPK
     1279-1289: Missing.

Note: No experimental confirmation available.
Show »
Length:1,701
Mass (Da):197,344
Checksum:i05C4909D40A2577B
GO
Isoform 3 (identifier: Q9P1Z9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1523: Missing.

Note: No experimental confirmation available.
Show »
Length:123
Mass (Da):14,106
Checksum:i12ED34125326E7B9
GO
Isoform 4 (identifier: Q9P1Z9-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     504-543: Missing.
     641-722: KSFETLADQT...QQSDKETLAF → VRAGDCSTGE...RPTSIGSWTN
     723-1646: Missing.

Note: No experimental confirmation available.
Show »
Length:682
Mass (Da):78,945
Checksum:iFD2A78E749508F13
GO

Sequence cautioni

The sequence BAA96053 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAH18175 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti348 – 3481L → F in CAH18175 (PubMed:17974005).Curated
Sequence conflicti422 – 4221K → M in CAH18175 (PubMed:17974005).Curated
Sequence conflicti579 – 5791R → W in BAA96053 (PubMed:10819331).Curated
Sequence conflicti1083 – 10831L → P in CAH18175 (PubMed:17974005).Curated
Sequence conflicti1177 – 11771N → I in CAH18175 (PubMed:17974005).Curated
Sequence conflicti1596 – 15961E → D in CAH18175 (PubMed:17974005).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti301 – 3011P → H.
Corresponds to variant rs7864805 [ dbSNP | Ensembl ].
VAR_038151
Natural varianti322 – 3221S → R.
Corresponds to variant rs17855671 [ dbSNP | Ensembl ].
VAR_038152
Natural varianti373 – 3731L → H.
Corresponds to variant rs10981558 [ dbSNP | Ensembl ].
VAR_038153
Natural varianti548 – 5481P → R.
Corresponds to variant rs61261278 [ dbSNP | Ensembl ].
VAR_061250
Natural varianti917 – 9171E → K.
Corresponds to variant rs12353306 [ dbSNP | Ensembl ].
VAR_038154
Natural varianti995 – 9951S → C.
Corresponds to variant rs2061634 [ dbSNP | Ensembl ].
VAR_038155
Natural varianti1146 – 11461F → L.
Corresponds to variant rs3747495 [ dbSNP | Ensembl ].
VAR_038156
Natural varianti1518 – 15181D → N.
Corresponds to variant rs2306093 [ dbSNP | Ensembl ].
VAR_038157

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 15231523Missing in isoform 3. 1 PublicationVSP_030502Add
BLAST
Alternative sequencei1 – 139139Missing in isoform 2. 1 PublicationVSP_030503Add
BLAST
Alternative sequencei504 – 54340Missing in isoform 4. 1 PublicationVSP_030504Add
BLAST
Alternative sequencei641 – 72282KSFET…ETLAF → VRAGDCSTGELRNPSRLWQI RQSGRVRTSSSISRRWYNCG RHTRASCWCRSWSWRRGWSS TGRSTAWRARCRRPTSIGSW TN in isoform 4. 1 PublicationVSP_030505Add
BLAST
Alternative sequencei723 – 1646924Missing in isoform 4. 1 PublicationVSP_030506Add
BLAST
Alternative sequencei1016 – 10161Q → QLRAGFFEHLEKWFDQCSLN TRVTVATKINELDSELELHL HLHQPRAQQIEKDIHNVRAA ELLLHQEQLDSHCAGVTETL KKKRLMFCQFQEEQNVRSKN FRLKIYDMEHIFLNATRSQK LVTLSNTLHQELLSYVDVTQ VSLRSFRQYLEESLGKLRYS NIEFIKHCR in isoform 2. 1 PublicationVSP_030507
Alternative sequencei1252 – 12521T → TGRGAWACGSRGSSEAGAGG AVCSPPVLCSCPGPSSPK in isoform 2. 1 PublicationVSP_030508
Alternative sequencei1279 – 128911Missing in isoform 2. 1 PublicationVSP_030509Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB040962 mRNA. Translation: BAA96053.1. Different initiation.
AL137557 mRNA. Translation: CAH10701.1.
CR627453 mRNA. Translation: CAH10534.1.
CR749320 mRNA. Translation: CAH18175.1. Different initiation.
AL512590 Genomic DNA. Translation: CAH71603.1.
CH471105 Genomic DNA. Translation: EAW58840.1.
BC112930 mRNA. Translation: AAI12931.1.
CCDSiCCDS35077.2. [Q9P1Z9-2]
UniGeneiHs.435629.

Genome annotation databases

EnsembliENST00000529487; ENSP00000434727; ENSG00000197816. [Q9P1Z9-2]
UCSCiuc004axg.3. human. [Q9P1Z9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB040962 mRNA. Translation: BAA96053.1. Different initiation.
AL137557 mRNA. Translation: CAH10701.1.
CR627453 mRNA. Translation: CAH10534.1.
CR749320 mRNA. Translation: CAH18175.1. Different initiation.
AL512590 Genomic DNA. Translation: CAH71603.1.
CH471105 Genomic DNA. Translation: EAW58840.1.
BC112930 mRNA. Translation: AAI12931.1.
CCDSiCCDS35077.2. [Q9P1Z9-2]
UniGeneiHs.435629.

3D structure databases

ProteinModelPortaliQ9P1Z9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ9P1Z9. 21 interactions.
STRINGi9606.ENSP00000364348.

PTM databases

iPTMnetiQ9P1Z9.
PhosphoSiteiQ9P1Z9.

Polymorphism and mutation databases

BioMutaiCCDC180.
DMDMi166218818.

Proteomic databases

MaxQBiQ9P1Z9.
PaxDbiQ9P1Z9.
PeptideAtlasiQ9P1Z9.
PRIDEiQ9P1Z9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000529487; ENSP00000434727; ENSG00000197816. [Q9P1Z9-2]
UCSCiuc004axg.3. human. [Q9P1Z9-1]

Organism-specific databases

GeneCardsiCCDC180.
H-InvDBHIX0008209.
HGNCiHGNC:29303. CCDC180.
neXtProtiNX_Q9P1Z9.
PharmGKBiPA165585576.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IG2N. Eukaryota.
ENOG41100NC. LUCA.
GeneTreeiENSGT00510000048985.
HOVERGENiHBG097391.
InParanoidiQ9P1Z9.
OMAiDMEHIFL.
OrthoDBiEOG091G00O0.
PhylomeDBiQ9P1Z9.
TreeFamiTF329281.

Miscellaneous databases

ChiTaRSiCCDC180. human.
PROiQ9P1Z9.

Gene expression databases

BgeeiENSG00000197816.
CleanExiHS_KIAA1529.
GenevisibleiQ9P1Z9. HS.

Family and domain databases

InterProiIPR026701. CCDC180.
IPR028089. DUF4455.
IPR027914. DUF4456.
[Graphical view]
PANTHERiPTHR21444:SF14. PTHR21444:SF14. 1 hit.
PfamiPF14643. DUF4455. 1 hit.
PF14644. DUF4456. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCC180_HUMAN
AccessioniPrimary (citable) accession number: Q9P1Z9
Secondary accession number(s): Q2KHR6
, Q5VV25, Q68DP5, Q69YV9, Q6AHY0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: September 7, 2016
This is version 96 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: 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

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 one 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.