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Protein

BSD domain-containing protein 1

Gene

BSDC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

Enzyme and pathway databases

BioCyciZFISH:ENSG00000160058-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
BSD domain-containing protein 1
Gene namesi
Name:BSDC1
ORF Names:UNQ2494/PRO5781
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:25501. BSDC1.

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000160058.
PharmGKBiPA142672548.

Polymorphism and mutation databases

BioMutaiBSDC1.
DMDMi74753009.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002826391 – 430BSD domain-containing protein 1Add BLAST430

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei92PhosphoserineCombined sources1
Modified residuei166PhosphoserineCombined sources1
Modified residuei356PhosphothreonineCombined sources1
Modified residuei387PhosphoserineCombined sources1
Modified residuei388PhosphoserineCombined sources1
Modified residuei418PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9NW68.
MaxQBiQ9NW68.
PaxDbiQ9NW68.
PeptideAtlasiQ9NW68.
PRIDEiQ9NW68.

PTM databases

iPTMnetiQ9NW68.
PhosphoSitePlusiQ9NW68.

Expressioni

Gene expression databases

BgeeiENSG00000160058.
CleanExiHS_BSDC1.
ExpressionAtlasiQ9NW68. baseline and differential.
GenevisibleiQ9NW68. HS.

Organism-specific databases

HPAiHPA031358.
HPA031360.

Interactioni

Protein-protein interaction databases

BioGridi120418. 5 interactors.
IntActiQ9NW68. 9 interactors.
MINTiMINT-8343011.

Structurei

3D structure databases

ProteinModelPortaliQ9NW68.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini146 – 198BSDPROSITE-ProRule annotationAdd BLAST53

Sequence similaritiesi

Contains 1 BSD domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG2690. Eukaryota.
ENOG4110FD4. LUCA.
GeneTreeiENSGT00390000009361.
HOVERGENiHBG106482.
InParanoidiQ9NW68.
OMAiTTEPYDS.
OrthoDBiEOG091G0HH6.
PhylomeDBiQ9NW68.
TreeFamiTF313210.

Family and domain databases

InterProiIPR005607. BSD_dom.
[Graphical view]
PfamiPF03909. BSD. 1 hit.
[Graphical view]
SMARTiSM00751. BSD. 1 hit.
[Graphical view]
PROSITEiPS50858. BSD. 1 hit.
[Graphical view]

Sequences (9)i

Sequence statusi: Complete.

This entry describes 9 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NW68-1) [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
MAEGEDVGWW RSWLQQSYQA VKEKSSEALE FMKRDLTEFT QVVQHDTACT
60 70 80 90 100
IAATASVVKE KLATEGSSGA TEKMKKGLSD FLGVISDTFA PSPDKTIDCD
110 120 130 140 150
VITLMGTPSG TAEPYDGTKA RLYSLQSDPA TYCNEPDGPP ELFDAWLSQF
160 170 180 190 200
CLEEKKGEIS ELLVGSPSIR ALYTKMVPAA VSHSEFWHRY FYKVHQLEQE
210 220 230 240 250
QARRDALKQR AEQSISEEPG WEEEEEELMG ISPISPKEAK VPVAKISTFP
260 270 280 290 300
EGEPGPQSPC EENLVTSVEP PAEVTPSESS ESISLVTQIA NPATAPEARV
310 320 330 340 350
LPKDLSQKLL EASLEEQGLA VDVGETGPSP PIHSKPLTPA GHTGGPEPRP
360 370 380 390 400
PARVETLREE APTDLRVFEL NSDSGKSTPS NNGKKGSSTD ISEDWEKDFD
410 420 430
LDMTEEEVQM ALSKVDASGE LEDVEWEDWE
Length:430
Mass (Da):47,163
Last modified:October 1, 2000 - v1
Checksum:i4031A3DC18A33646
GO
Isoform 2 (identifier: Q9NW68-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     386-386: G → ETRSQFTVDFLWKISVTLLEPLGQSASPLFSNLPFPRLKHGHQ
     387-430: Missing.

Show »
Length:428
Mass (Da):46,860
Checksum:iCAF6314F34758FBC
GO
Isoform 3 (identifier: Q9NW68-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     63-63: A → AIAACSRGACFLCPFSIQ
     421-430: LEDVEWEDWE → VSGPGGSEGSEPNGPGCESSPQPAQLSPQEGPCSCLR

Show »
Length:474
Mass (Da):51,167
Checksum:iAE097F0DE5C2D6E4
GO
Isoform 4 (identifier: Q9NW68-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-104: Missing.
     421-430: LEDVEWEDWE → VSGPGGSEGSEPNGPGCESSPQPAQLSPQEGPCSCLR

Show »
Length:353
Mass (Da):37,994
Checksum:i8E2AE07789DDEE97
GO
Isoform 5 (identifier: Q9NW68-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     146-173: WLSQFCLEEKKGEISELLVGSPSIRALY → CQPELWAQILVAPCWPSWASAHTWEGAL
     174-430: Missing.

Note: No experimental confirmation available.
Show »
Length:173
Mass (Da):18,901
Checksum:i56B1ADA0DEBEFC6F
GO
Isoform 6 (identifier: Q9NW68-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-359: Missing.
     360-385: EAPTDLRVFELNSDSGKSTPSNNGKK → MLSPQLHPLQVPLPCLLLLFTLWLVVP
     421-430: LEDVEWEDWE → VSGPGGSEGSEPNGPGCESSPQPAQLSPQEGPCSCLR

Note: No experimental confirmation available.
Show »
Length:99
Mass (Da):10,525
Checksum:i7676A2A4241391BC
GO
Isoform 7 (identifier: Q9NW68-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     63-63: A → AIAACSRGACFLCPFSIQ

Show »
Length:447
Mass (Da):48,932
Checksum:iA18E2B7A4B640F92
GO
Isoform 8 (identifier: Q9NW68-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     64-120: TEGSSGATEKMKKGLSDFLGVISDTFAPSPDKTIDCDVITLMGTPSGTAEPYDGTKA → A

Show »
Length:374
Mass (Da):41,412
Checksum:iB3126EBBE72FC029
GO
Isoform 9 (identifier: Q9NW68-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     25-119: Missing.

Show »
Length:335
Mass (Da):37,160
Checksum:iB95AAECFDBBF6B00
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti128D → G in CAH18084 (PubMed:17974005).Curated1
Sequence conflicti137D → G in AAH26322 (PubMed:15489334).Curated1
Sequence conflicti143F → L in BAB13825 (PubMed:14702039).Curated1
Sequence conflicti149Q → K in AAH26322 (PubMed:15489334).Curated1
Sequence conflicti250P → H in AAH26322 (PubMed:15489334).Curated1
Sequence conflicti287T → A in AAH26322 (PubMed:15489334).Curated1
Sequence conflicti430E → D in CAG33533 (Ref. 3) Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0242161 – 359Missing in isoform 6. 1 PublicationAdd BLAST359
Alternative sequenceiVSP_0242171 – 104Missing in isoform 4. 2 PublicationsAdd BLAST104
Alternative sequenceiVSP_04167225 – 119Missing in isoform 9. 1 PublicationAdd BLAST95
Alternative sequenceiVSP_02421863A → AIAACSRGACFLCPFSIQ in isoform 3 and isoform 7. 2 Publications1
Alternative sequenceiVSP_04167364 – 120TEGSS…DGTKA → A in isoform 8. 1 PublicationAdd BLAST57
Alternative sequenceiVSP_024219146 – 173WLSQF…IRALY → CQPELWAQILVAPCWPSWAS AHTWEGAL in isoform 5. 1 PublicationAdd BLAST28
Alternative sequenceiVSP_024220174 – 430Missing in isoform 5. 1 PublicationAdd BLAST257
Alternative sequenceiVSP_024221360 – 385EAPTD…NNGKK → MLSPQLHPLQVPLPCLLLLF TLWLVVP in isoform 6. 1 PublicationAdd BLAST26
Alternative sequenceiVSP_024222386G → ETRSQFTVDFLWKISVTLLE PLGQSASPLFSNLPFPRLKH GHQ in isoform 2. 1 Publication1
Alternative sequenceiVSP_024223387 – 430Missing in isoform 2. 1 PublicationAdd BLAST44
Alternative sequenceiVSP_024224421 – 430LEDVEWEDWE → VSGPGGSEGSEPNGPGCESS PQPAQLSPQEGPCSCLR in isoform 3, isoform 4 and isoform 6. 3 Publications10

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358230 mRNA. Translation: AAQ88597.1.
AK001138 mRNA. Translation: BAA91517.1.
AK021440 mRNA. Translation: BAB13825.1.
AK297604 mRNA. Translation: BAG59989.1.
AK300231 mRNA. Translation: BAG61999.1.
AK300306 mRNA. Translation: BAG62059.1.
AK304477 mRNA. Translation: BAG65290.1.
CR457252 mRNA. Translation: CAG33533.1.
BX641056 mRNA. Translation: CAE46029.1.
CR749228 mRNA. Translation: CAH18084.1.
AL109945 Genomic DNA. Translation: CAI22889.1.
AL109945 Genomic DNA. Translation: CAI22890.1.
CH471059 Genomic DNA. Translation: EAX07526.1.
BC026322 mRNA. Translation: AAH26322.1.
BC028381 mRNA. Translation: AAH28381.1.
CCDSiCCDS363.2. [Q9NW68-1]
CCDS44101.1. [Q9NW68-9]
CCDS44102.1. [Q9NW68-8]
CCDS44103.1. [Q9NW68-7]
CCDS72752.1. [Q9NW68-3]
RefSeqiNP_001137360.1. NM_001143888.2. [Q9NW68-7]
NP_001137361.1. NM_001143889.2. [Q9NW68-8]
NP_001137362.1. NM_001143890.2. [Q9NW68-9]
NP_001287887.1. NM_001300958.1. [Q9NW68-3]
NP_060515.3. NM_018045.7. [Q9NW68-1]
UniGeneiHs.353454.

Genome annotation databases

EnsembliENST00000341071; ENSP00000344816; ENSG00000160058. [Q9NW68-3]
ENST00000419121; ENSP00000405752; ENSG00000160058. [Q9NW68-8]
ENST00000444377; ENSP00000414103; ENSG00000160058. [Q9NW68-2]
ENST00000446293; ENSP00000397759; ENSG00000160058. [Q9NW68-7]
ENST00000455895; ENSP00000412173; ENSG00000160058. [Q9NW68-1]
ENST00000526031; ENSP00000432382; ENSG00000160058. [Q9NW68-9]
GeneIDi55108.
KEGGihsa:55108.
UCSCiuc001bvh.5. human. [Q9NW68-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358230 mRNA. Translation: AAQ88597.1.
AK001138 mRNA. Translation: BAA91517.1.
AK021440 mRNA. Translation: BAB13825.1.
AK297604 mRNA. Translation: BAG59989.1.
AK300231 mRNA. Translation: BAG61999.1.
AK300306 mRNA. Translation: BAG62059.1.
AK304477 mRNA. Translation: BAG65290.1.
CR457252 mRNA. Translation: CAG33533.1.
BX641056 mRNA. Translation: CAE46029.1.
CR749228 mRNA. Translation: CAH18084.1.
AL109945 Genomic DNA. Translation: CAI22889.1.
AL109945 Genomic DNA. Translation: CAI22890.1.
CH471059 Genomic DNA. Translation: EAX07526.1.
BC026322 mRNA. Translation: AAH26322.1.
BC028381 mRNA. Translation: AAH28381.1.
CCDSiCCDS363.2. [Q9NW68-1]
CCDS44101.1. [Q9NW68-9]
CCDS44102.1. [Q9NW68-8]
CCDS44103.1. [Q9NW68-7]
CCDS72752.1. [Q9NW68-3]
RefSeqiNP_001137360.1. NM_001143888.2. [Q9NW68-7]
NP_001137361.1. NM_001143889.2. [Q9NW68-8]
NP_001137362.1. NM_001143890.2. [Q9NW68-9]
NP_001287887.1. NM_001300958.1. [Q9NW68-3]
NP_060515.3. NM_018045.7. [Q9NW68-1]
UniGeneiHs.353454.

3D structure databases

ProteinModelPortaliQ9NW68.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120418. 5 interactors.
IntActiQ9NW68. 9 interactors.
MINTiMINT-8343011.

PTM databases

iPTMnetiQ9NW68.
PhosphoSitePlusiQ9NW68.

Polymorphism and mutation databases

BioMutaiBSDC1.
DMDMi74753009.

Proteomic databases

EPDiQ9NW68.
MaxQBiQ9NW68.
PaxDbiQ9NW68.
PeptideAtlasiQ9NW68.
PRIDEiQ9NW68.

Protocols and materials databases

DNASUi55108.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000341071; ENSP00000344816; ENSG00000160058. [Q9NW68-3]
ENST00000419121; ENSP00000405752; ENSG00000160058. [Q9NW68-8]
ENST00000444377; ENSP00000414103; ENSG00000160058. [Q9NW68-2]
ENST00000446293; ENSP00000397759; ENSG00000160058. [Q9NW68-7]
ENST00000455895; ENSP00000412173; ENSG00000160058. [Q9NW68-1]
ENST00000526031; ENSP00000432382; ENSG00000160058. [Q9NW68-9]
GeneIDi55108.
KEGGihsa:55108.
UCSCiuc001bvh.5. human. [Q9NW68-1]

Organism-specific databases

CTDi55108.
GeneCardsiBSDC1.
HGNCiHGNC:25501. BSDC1.
HPAiHPA031358.
HPA031360.
neXtProtiNX_Q9NW68.
OpenTargetsiENSG00000160058.
PharmGKBiPA142672548.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2690. Eukaryota.
ENOG4110FD4. LUCA.
GeneTreeiENSGT00390000009361.
HOVERGENiHBG106482.
InParanoidiQ9NW68.
OMAiTTEPYDS.
OrthoDBiEOG091G0HH6.
PhylomeDBiQ9NW68.
TreeFamiTF313210.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000160058-MONOMER.

Miscellaneous databases

ChiTaRSiBSDC1. human.
GenomeRNAii55108.
PROiQ9NW68.

Gene expression databases

BgeeiENSG00000160058.
CleanExiHS_BSDC1.
ExpressionAtlasiQ9NW68. baseline and differential.
GenevisibleiQ9NW68. HS.

Family and domain databases

InterProiIPR005607. BSD_dom.
[Graphical view]
PfamiPF03909. BSD. 1 hit.
[Graphical view]
SMARTiSM00751. BSD. 1 hit.
[Graphical view]
PROSITEiPS50858. BSD. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiBSDC1_HUMAN
AccessioniPrimary (citable) accession number: Q9NW68
Secondary accession number(s): B4DMS7
, B4DTI7, B4DTP7, B4E2X8, Q49AT8, Q68DY6, Q6IAA3, Q6MZK1, Q6UXS1, Q9HAL9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 3, 2007
Last sequence update: October 1, 2000
Last modified: November 30, 2016
This is version 110 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 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. 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.