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Protein

Protein BLOM7

Gene

KIAA0907

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

Functioni

RNA-binding protein involved in pre-mRNA splicing (PubMed:19641227). Interacts with the PRP19C/Prp19 complex/NTC/Nineteen complex which is part of the spliceosome (PubMed:19641227). Involved in regulating splice site selection (PubMed:19641227). Binds preferentially RNA with A/C rich sequences and poly-C stretches (PubMed:23144703).2 Publications

GO - Molecular functioni

  • RNA binding Source: UniProtKB

GO - Biological processi

  • mRNA splice site selection Source: UniProtKB

Keywordsi

Molecular functionRNA-binding
Biological processmRNA processing, mRNA splicing

Names & Taxonomyi

Protein namesi
Recommended name:
Protein BLOM7Curated
Alternative name(s):
Brings lots of money 71 Publication
Gene namesi
Name:KIAA0907Imported
Synonyms:BLOM71 Publication, SNORA80EHGImported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000132680.10.
HGNCiHGNC:29145. KIAA0907.

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

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi22889.
OpenTargetsiENSG00000132680.
PharmGKBiPA142671618.

Polymorphism and mutation databases

BioMutaiKIAA0907.
DMDMi74750236.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002966691 – 614Protein BLOM7Add BLAST614

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei571PhosphoserineCombined sources1
Modified residuei572PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ7Z7F0.
MaxQBiQ7Z7F0.
PaxDbiQ7Z7F0.
PeptideAtlasiQ7Z7F0.
PRIDEiQ7Z7F0.

PTM databases

iPTMnetiQ7Z7F0.
PhosphoSitePlusiQ7Z7F0.

Expressioni

Tissue specificityi

Ubiquitous. Expressed at high level in skeletal muscle, kidney, heart, brain and liver.1 Publication

Gene expression databases

BgeeiENSG00000132680.
CleanExiHS_KIAA0907.
GenevisibleiQ7Z7F0. HS.

Organism-specific databases

HPAiHPA008796.

Interactioni

Subunit structurei

Interacts with PRPF19 (PubMed:19641227). Isoform 2: Interacts with U2AF65 (PubMed:19641227).1 Publication

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi116555. 25 interactors.
IntActiQ7Z7F0. 7 interactors.
STRINGi9606.ENSP00000357304.

Structurei

Secondary structure

1614
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi231 – 236Combined sources6
Turni244 – 246Combined sources3
Helixi248 – 252Combined sources5
Helixi255 – 257Combined sources3
Helixi258 – 267Combined sources10
Beta strandi270 – 276Combined sources7
Turni283 – 285Combined sources3
Beta strandi290 – 292Combined sources3
Beta strandi294 – 301Combined sources8
Helixi302 – 330Combined sources29

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2YQRNMR-A227-338[»]
ProteinModelPortaliQ7Z7F0.
SMRiQ7Z7F0.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ7Z7F0.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini100 – 180KH 11 PublicationAdd BLAST81
Domaini235 – 317KH 21 PublicationAdd BLAST83

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni480 – 549Required for nuclear retention1 PublicationAdd BLAST70

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi335 – 457Pro-richAdd BLAST123

Domaini

The C-terminal part is necessary for the interaction with the PRP19C/Prp19 complex/NTC/Nineteen complex.1 Publication
The KH domains mediate RNA-binding.1 Publication

Sequence similaritiesi

Belongs to the BLOM7 family.Curated

Phylogenomic databases

eggNOGiENOG410IT0P. Eukaryota.
ENOG4111JYD. LUCA.
GeneTreeiENSGT00510000047412.
HOGENOMiHOG000067879.
HOVERGENiHBG099830.
InParanoidiQ7Z7F0.
OMAiMSGPFIP.
OrthoDBiEOG091G0YFP.
PhylomeDBiQ7Z7F0.

Family and domain databases

Gene3Di3.30.1370.10. 2 hits.
InterProiView protein in InterPro
IPR036612. KH_dom_type_1_sf.
IPR031121. KH_prot.
PANTHERiPTHR15744. PTHR15744. 1 hit.
SUPFAMiSSF54791. SSF54791. 2 hits.

Sequences (4)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q7Z7F0-1) [UniParc]FASTAAdd to basket
Also known as: Alpha, Blom7alpha1 Publication

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
MSAGSATHPG AGGRRSKWDQ PAPAPLLFLP PAAPGGEVTS SGGSPGGTTA
60 70 80 90 100
APSGALDAAA AVAAKINAML MAKGKLKPTQ NASEKLQAPG KGLTSNKSKD
110 120 130 140 150
DLVVAEVEIN DVPLTCRNLL TRGQTQDEIS RLSGAAVSTR GRFMTTEEKA
160 170 180 190 200
KVGPGDRPLY LHVQGQTREL VDRAVNRIKE IITNGVVKAA TGTSPTFNGA
210 220 230 240 250
TVTVYHQPAP IAQLSPAVSQ KPPFQSGMHY VQDKLFVGLE HAVPTFNVKE
260 270 280 290 300
KVEGPGCSYL QHIQIETGAK VFLRGKGSGC IEPASGREAF EPMYIYISHP
310 320 330 340 350
KPEGLAAAKK LCENLLQTVH AEYSRFVNQI NTAVPLPGYT QPSAISSVPP
360 370 380 390 400
QPPYYPSNGY QSGYPVVPPP QQPVQPPYGV PSIVPPAVSL APGVLPALPT
410 420 430 440 450
GVPPVPTQYP ITQVQPPAST GQSPMGGPFI PAAPVKTALP AGPQPQPQPQ
460 470 480 490 500
PPLPSQPQAQ KRRFTEELPD ERESGLLGYQ HGPIHMTNLG TGFSSQNEIE
510 520 530 540 550
GAGSKPASSS GKERERDRQL MPPPAFPVTG IKTESDERNG SGTLTGSHDY
560 570 580 590 600
PAKKMKTTEK GFGLVAYAAD SSDEEEEHGG HKNASSFPQG WSLGYQYPSS
610
QPRAKQQMPF WMAP
Length:614
Mass (Da):64,845
Last modified:October 1, 2003 - v1
Checksum:i61968993DA061561
GO
Isoform 2 (identifier: Q7Z7F0-2) [UniParc]FASTAAdd to basket
Also known as: Beta, KIAA09071 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     549-564: DYPAKKMKTTEKGFGL → GECDIAGGTGEWLRLV
     565-614: Missing.

Note: Interacts with U2AF65.1 Publication
Show »
Length:564
Mass (Da):59,138
Checksum:i6CAEC61BE66BB4CE
GO
Isoform 3 (identifier: Q7Z7F0-3) [UniParc]FASTAAdd to basket
Also known as: Gamma

The sequence of this isoform differs from the canonical sequence as follows:
     338-378: GYTQPSAISS...PPQQPVQPPY → AASSTSLRST...IPDNTSAASS
     379-614: Missing.

Show »
Length:384
Mass (Da):40,283
Checksum:i55E581185DDDD64D
GO
Isoform 4 (identifier: Q7Z7F0-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     228-241: MHYVQDKLFVGLEH → VCFGEGSLIALSFL
     242-614: Missing.

Show »
Length:241
Mass (Da):24,732
Checksum:iD707FA95D343AD55
GO

Sequence cautioni

The sequence BAA74930 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_027238228 – 241MHYVQ…VGLEH → VCFGEGSLIALSFL in isoform 4. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_027239242 – 614Missing in isoform 4. 1 PublicationAdd BLAST373
Alternative sequenceiVSP_027240338 – 378GYTQP…VQPPY → AASSTSLRSTKHSATSCFIS TWSLAGITYWSPTCANTIPD NTSAASS in isoform 3. 1 PublicationAdd BLAST41
Alternative sequenceiVSP_027241379 – 614Missing in isoform 3. 1 PublicationAdd BLAST236
Alternative sequenceiVSP_027242549 – 564DYPAK…KGFGL → GECDIAGGTGEWLRLV in isoform 2. 2 PublicationsAdd BLAST16
Alternative sequenceiVSP_027243565 – 614Missing in isoform 2. 2 PublicationsAdd BLAST50

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY112680 mRNA. Translation: AAM51855.1.
AY112681 mRNA. Translation: AAM51856.1.
AY112682 mRNA. Translation: AAM51857.1.
AB020714 mRNA. Translation: BAA74930.2. Different initiation.
AL355388 Genomic DNA. Translation: CAH72623.1.
AL355388 Genomic DNA. Translation: CAH72624.1.
AL355388 Genomic DNA. Translation: CAH72625.1.
BC027182 mRNA. Translation: AAH27182.1.
BC062637 mRNA. Translation: AAH62637.1.
CCDSiCCDS30885.1. [Q7Z7F0-1]
RefSeqiNP_055764.2. NM_014949.3. [Q7Z7F0-1]
UniGeneiHs.24656.

Genome annotation databases

EnsembliENST00000368319; ENSP00000357302; ENSG00000132680. [Q7Z7F0-3]
ENST00000368320; ENSP00000357303; ENSG00000132680. [Q7Z7F0-2]
ENST00000368321; ENSP00000357304; ENSG00000132680. [Q7Z7F0-1]
GeneIDi22889.
KEGGihsa:22889.
UCSCiuc001fmi.2. human. [Q7Z7F0-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiBLOM7_HUMAN
AccessioniPrimary (citable) accession number: Q7Z7F0
Secondary accession number(s): O94981
, Q7L7Q2, Q7Z7E9, Q8TBQ0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 24, 2007
Last sequence update: October 1, 2003
Last modified: October 25, 2017
This is version 117 of the entry and version 1 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries