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Protein

DDB1- and CUL4-associated factor 12-like protein 2

Gene

DCAF12L2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Functioni

Enzyme and pathway databases

SignaLinkiQ5VW00.

Names & Taxonomyi

Protein namesi
Recommended name:
DDB1- and CUL4-associated factor 12-like protein 2
Alternative name(s):
WD repeat-containing protein 40C
Gene namesi
Name:DCAF12L2
Synonyms:WDR40C
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:32950. DCAF12L2.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA165756531.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 463463DDB1- and CUL4-associated factor 12-like protein 2PRO_0000306850Add
BLAST

Proteomic databases

PaxDbiQ5VW00.
PRIDEiQ5VW00.

PTM databases

PhosphoSiteiQ5VW00.

Expressioni

Gene expression databases

BgeeiQ5VW00.
CleanExiHS_WDR40C.
GenevestigatoriQ5VW00.

Organism-specific databases

HPAiHPA044737.
HPA048981.
HPA053138.

Interactioni

Protein-protein interaction databases

BioGridi131079. 2 interactions.
IntActiQ5VW00. 1 interaction.
STRINGi9606.ENSP00000353128.

Structurei

3D structure databases

ProteinModelPortaliQ5VW00.
SMRiQ5VW00. Positions 353-379.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati146 – 18742WD 1Add
BLAST
Repeati192 – 23039WD 2Add
BLAST
Repeati260 – 29940WD 3Add
BLAST
Repeati348 – 38538WD 4Add
BLAST

Sequence similaritiesi

Belongs to the WD repeat DCAF12 family.Curated
Contains 4 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiNOG67718.
GeneTreeiENSGT00390000001132.
HOGENOMiHOG000047356.
HOVERGENiHBG055605.
InParanoidiQ5VW00.
OMAiIGEFPNA.
OrthoDBiEOG73NG34.
PhylomeDBiQ5VW00.
TreeFamiTF323731.

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 1 hit.
[Graphical view]
SMARTiSM00320. WD40. 4 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.
PROSITEiPS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q5VW00-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAQQQTGSRK RKAPAVEAGA GSSSSQGLAA ADGEGPLLPK KQKRPATRRR
60 70 80 90 100
LVHYLKGREV GARGPAGLQG FEGELRGYAV QRLPELLTER QLDLGTLNKV
110 120 130 140 150
FASQWLNARQ VVCGTKCNTL FVVDVQSGHI TRIPLMRDKE AGLAQAHQGC
160 170 180 190 200
GIHAIELNPS KTLLATGGEN PNSLAIYQLP TLDPLCLGDR HGHKDWIFAV
210 220 230 240 250
AWLSDTVAVS GSRDGTVALW RMDPDMFNGS IAWHSEVGLP VYAHIRPRDV
260 270 280 290 300
EAIPRASTNP SNRKVRALAF SGKNQELGAV SLDGYFHLWK ARSTLSRLLS
310 320 330 340 350
IRLPYCRENV CLTYCDELSL YAVGSQSHVS FLDPRQRQQN IRPLCSREGG
360 370 380 390 400
TGVRSLSFYQ HIITVGTGHG SLLFYDIRAQ KFLEERASSS LDSMPGPAGR
410 420 430 440 450
KLKLACGRGW LNQDDVWVNY FGGMGEFPNA LYTHCYNWPE MKLFVAGGPL
460
PSGLHGNYAG LWS
Length:463
Mass (Da):50,803
Last modified:December 7, 2004 - v1
Checksum:i94B41809F2243CD7
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti147 – 1471H → Q.
Corresponds to variant rs10126452 [ dbSNP | Ensembl ].
VAR_062104

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL445072 Genomic DNA. Translation: CAH70502.1.
CH471107 Genomic DNA. Translation: EAX11842.1.
BC136673 mRNA. Translation: AAI36674.1.
BC136674 mRNA. Translation: AAI36675.1.
CCDSiCCDS43991.1.
RefSeqiNP_001013650.1. NM_001013628.2.
UniGeneiHs.181867.

Genome annotation databases

EnsembliENST00000360028; ENSP00000353128; ENSG00000198354.
GeneIDi340578.
KEGGihsa:340578.
UCSCiuc004euk.2. human.

Polymorphism databases

DMDMi74756914.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL445072 Genomic DNA. Translation: CAH70502.1.
CH471107 Genomic DNA. Translation: EAX11842.1.
BC136673 mRNA. Translation: AAI36674.1.
BC136674 mRNA. Translation: AAI36675.1.
CCDSiCCDS43991.1.
RefSeqiNP_001013650.1. NM_001013628.2.
UniGeneiHs.181867.

3D structure databases

ProteinModelPortaliQ5VW00.
SMRiQ5VW00. Positions 353-379.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi131079. 2 interactions.
IntActiQ5VW00. 1 interaction.
STRINGi9606.ENSP00000353128.

PTM databases

PhosphoSiteiQ5VW00.

Polymorphism databases

DMDMi74756914.

Proteomic databases

PaxDbiQ5VW00.
PRIDEiQ5VW00.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000360028; ENSP00000353128; ENSG00000198354.
GeneIDi340578.
KEGGihsa:340578.
UCSCiuc004euk.2. human.

Organism-specific databases

CTDi340578.
GeneCardsiGC0XM125298.
HGNCiHGNC:32950. DCAF12L2.
HPAiHPA044737.
HPA048981.
HPA053138.
neXtProtiNX_Q5VW00.
PharmGKBiPA165756531.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG67718.
GeneTreeiENSGT00390000001132.
HOGENOMiHOG000047356.
HOVERGENiHBG055605.
InParanoidiQ5VW00.
OMAiIGEFPNA.
OrthoDBiEOG73NG34.
PhylomeDBiQ5VW00.
TreeFamiTF323731.

Enzyme and pathway databases

SignaLinkiQ5VW00.

Miscellaneous databases

GenomeRNAii340578.
NextBioi97942.
PROiQ5VW00.

Gene expression databases

BgeeiQ5VW00.
CleanExiHS_WDR40C.
GenevestigatoriQ5VW00.

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 1 hit.
[Graphical view]
SMARTiSM00320. WD40. 4 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.
PROSITEiPS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. "The DNA sequence of the human X chromosome."
    Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
    , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
    Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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].
    Tissue: Brain.

Entry informationi

Entry nameiDC122_HUMAN
AccessioniPrimary (citable) accession number: Q5VW00
Secondary accession number(s): B2RN42
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: December 7, 2004
Last modified: March 4, 2015
This is version 100 of the entry and version 1 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 X
    Human chromosome X: 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

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.