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Protein

DDB1- and CUL4-associated factor 12-like protein 1

Gene

DCAF12L1

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

Functioni

Enzyme and pathway databases

SignaLinkiQ5VU92.

Names & Taxonomyi

Protein namesi
Recommended name:
DDB1- and CUL4-associated factor 12-like protein 1
Alternative name(s):
WD repeat-containing protein 40B
Gene namesi
Name:DCAF12L1
Synonyms:WDR40B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:29395. DCAF12L1.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA165756488.

Polymorphism and mutation databases

BioMutaiDCAF12L1.
DMDMi74762259.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 463463DDB1- and CUL4-associated factor 12-like protein 1PRO_0000306848Add
BLAST

Proteomic databases

MaxQBiQ5VU92.
PaxDbiQ5VU92.
PRIDEiQ5VU92.

PTM databases

iPTMnetiQ5VU92.
PhosphoSiteiQ5VU92.

Expressioni

Gene expression databases

BgeeiQ5VU92.
CleanExiHS_WDR40B.
GenevisibleiQ5VU92. HS.

Organism-specific databases

HPAiHPA044737.
HPA048981.
HPA053138.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
SH2D2AQ9NP313EBI-10694873,EBI-490630

Protein-protein interaction databases

BioGridi126547. 2 interactions.
IntActiQ5VU92. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliQ5VU92.
SMRiQ5VU92. Positions 309-334, 352-379.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati87 – 13751WD 1Add
BLAST
Repeati138 – 18447WD 2Add
BLAST
Repeati185 – 25268WD 3Add
BLAST
Repeati253 – 29745WD 4Add
BLAST
Repeati298 – 34144WD 5Add
BLAST
Repeati342 – 37635WD 6Add
BLAST

Sequence similaritiesi

Belongs to the WD repeat DCAF12 family.Curated
Contains 6 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiENOG410KCCW. Eukaryota.
ENOG410XTH6. LUCA.
GeneTreeiENSGT00390000001132.
HOGENOMiHOG000047356.
HOVERGENiHBG055605.
InParanoidiQ5VU92.
OMAiQDQQNIR.
OrthoDBiEOG73NG34.
PhylomeDBiQ5VU92.
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]
SMARTiSM00320. WD40. 3 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.

Q5VU92-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAQQQTGSRK RKAPAVEADA ESSPSQGLAA ADGEGPLLLK RQRRPATYRS
60 70 80 90 100
MAHYLKVREV GGWGPARLQG FDGELRGYAV QRLPELLTER QLELGTVNKV
110 120 130 140 150
FASQWLNSRQ VVCGTKCNTL FVVDVESGHI ARIPLLRDSE ARLAQDQQGC
160 170 180 190 200
GIHAIELNPS KTLLATGGEN PNSLAIYQLP SLDPLCLGDR HGHKDWIFAV
210 220 230 240 250
AWLSDTVAVS GSRDGTVALW RMDPDKFDDT VAWHSEVGLP VYAHIRPRDV
260 270 280 290 300
EAIPRAIINP SNRKVRALAC GGKNQELGAV SLDGYFHLWK AGSALSRLLS
310 320 330 340 350
IRLPYFRDNV CLTYCDDMSV YAVGSHSHVS FLDLRQDQQN IRPLCSREGG
360 370 380 390 400
TGVRSLSFYR HIITVGTGQG SLLFYDVRAQ KFLEERASAT LESSSGPARR
410 420 430 440 450
KLRLACGRGW LNHNDFWVNY FGGMEVFPNA LYTHCYNWPE MKLFVAGGPL
460
PAGLHGNYAG LWS
Length:463
Mass (Da):51,201
Last modified:December 7, 2004 - v1
Checksum:iD499893FBE4D4E49
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti19 – 191D → G.1 Publication
Corresponds to variant rs11095722 [ dbSNP | Ensembl ].
VAR_035323

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL590425 Genomic DNA. Translation: CAH69964.1.
CH471107 Genomic DNA. Translation: EAX11841.1.
BC035674 mRNA. Translation: AAH35674.1.
CCDSiCCDS14610.1.
RefSeqiNP_848565.2. NM_178470.4.
UniGeneiHs.120403.

Genome annotation databases

EnsembliENST00000371126; ENSP00000360167; ENSG00000198889.
GeneIDi139170.
KEGGihsa:139170.
UCSCiuc004eul.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL590425 Genomic DNA. Translation: CAH69964.1.
CH471107 Genomic DNA. Translation: EAX11841.1.
BC035674 mRNA. Translation: AAH35674.1.
CCDSiCCDS14610.1.
RefSeqiNP_848565.2. NM_178470.4.
UniGeneiHs.120403.

3D structure databases

ProteinModelPortaliQ5VU92.
SMRiQ5VU92. Positions 309-334, 352-379.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126547. 2 interactions.
IntActiQ5VU92. 1 interaction.

PTM databases

iPTMnetiQ5VU92.
PhosphoSiteiQ5VU92.

Polymorphism and mutation databases

BioMutaiDCAF12L1.
DMDMi74762259.

Proteomic databases

MaxQBiQ5VU92.
PaxDbiQ5VU92.
PRIDEiQ5VU92.

Protocols and materials databases

DNASUi139170.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000371126; ENSP00000360167; ENSG00000198889.
GeneIDi139170.
KEGGihsa:139170.
UCSCiuc004eul.4. human.

Organism-specific databases

CTDi139170.
GeneCardsiDCAF12L1.
HGNCiHGNC:29395. DCAF12L1.
HPAiHPA044737.
HPA048981.
HPA053138.
neXtProtiNX_Q5VU92.
PharmGKBiPA165756488.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410KCCW. Eukaryota.
ENOG410XTH6. LUCA.
GeneTreeiENSGT00390000001132.
HOGENOMiHOG000047356.
HOVERGENiHBG055605.
InParanoidiQ5VU92.
OMAiQDQQNIR.
OrthoDBiEOG73NG34.
PhylomeDBiQ5VU92.
TreeFamiTF323731.

Enzyme and pathway databases

SignaLinkiQ5VU92.

Miscellaneous databases

GenomeRNAii139170.
PROiQ5VU92.

Gene expression databases

BgeeiQ5VU92.
CleanExiHS_WDR40B.
GenevisibleiQ5VU92. HS.

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]
SMARTiSM00320. WD40. 3 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], VARIANT GLY-19.
    Tissue: Brain.

Entry informationi

Entry nameiDC121_HUMAN
AccessioniPrimary (citable) accession number: Q5VU92
Secondary accession number(s): Q8IYK3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: December 7, 2004
Last modified: June 8, 2016
This is version 108 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

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.