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Protein

RING finger and SPRY domain-containing protein 1

Gene

RSPRY1

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

Functioni

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri527 – 56236RING-typePROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

Complete GO annotation...

Keywords - Ligandi

Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
RING finger and SPRY domain-containing protein 1
Gene namesi
Name:RSPRY1
Synonyms:KIAA1972
ORF Names:UNQ328/PRO444
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:29420. RSPRY1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type (SEMDFA)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive skeletal disorder characterized by spondyloepimetaphyseal dysplasia, short stature, facial dysmorphism, short fourth metatarsals, and intellectual disability.
See also OMIM:616723
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti41 – 411G → C in SEMDFA. 1 Publication
VAR_075873

Keywords - Diseasei

Disease mutation, Dwarfism, Mental retardation

Organism-specific databases

MIMi616723. phenotype.
PharmGKBiPA143485602.

Polymorphism and mutation databases

BioMutaiRSPRY1.
DMDMi74731506.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1616Sequence analysisAdd
BLAST
Chaini17 – 576560RING finger and SPRY domain-containing protein 1PRO_0000278786Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei50 – 501PhosphoserineBy similarity
Glycosylationi314 – 3141N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ96DX4.
MaxQBiQ96DX4.
PaxDbiQ96DX4.
PeptideAtlasiQ96DX4.
PRIDEiQ96DX4.

PTM databases

iPTMnetiQ96DX4.
PhosphoSiteiQ96DX4.
SwissPalmiQ96DX4.

Expressioni

Gene expression databases

BgeeiQ96DX4.
CleanExiHS_RSPRY1.
ExpressionAtlasiQ96DX4. baseline and differential.
GenevisibleiQ96DX4. HS.

Organism-specific databases

HPAiHPA003729.

Interactioni

Protein-protein interaction databases

BioGridi124650. 43 interactions.
IntActiQ96DX4. 2 interactions.
MINTiMINT-5006550.
STRINGi9606.ENSP00000377942.

Structurei

3D structure databases

ProteinModelPortaliQ96DX4.
SMRiQ96DX4. Positions 353-448, 488-575.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini300 – 483184B30.2/SPRYPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 B30.2/SPRY domain.PROSITE-ProRule annotation
Contains 1 RING-type zinc finger.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri527 – 56236RING-typePROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Signal, Zinc-finger

Phylogenomic databases

eggNOGiENOG410IR1Y. Eukaryota.
ENOG410XS5T. LUCA.
GeneTreeiENSGT00530000063442.
HOGENOMiHOG000261619.
HOVERGENiHBG057205.
InParanoidiQ96DX4.
OMAiSIRDNCC.
OrthoDBiEOG7NCV36.
PhylomeDBiQ96DX4.
TreeFamiTF313546.

Family and domain databases

Gene3Di3.30.40.10. 1 hit.
InterProiIPR016024. ARM-type_fold.
IPR001870. B30.2/SPRY.
IPR013320. ConA-like_dom.
IPR003877. SPRY_dom.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PfamiPF00622. SPRY. 1 hit.
[Graphical view]
SMARTiSM00184. RING. 1 hit.
SM00449. SPRY. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 1 hit.
SSF49899. SSF49899. 1 hit.
PROSITEiPS50188. B302_SPRY. 1 hit.
PS50089. ZF_RING_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96DX4-1) [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
MIVFGWAVFL ASRSLGQGLL LTLEEHIAHF LGTGGAATTM GNSCICRDDS
60 70 80 90 100
GTDDSVDTQQ QQAENSAVPT ADTRSQPRDP VRPPRRGRGP HEPRRKKQNV
110 120 130 140 150
DGLVLDTLAV IRTLVDNDQE PPYSMITLHE MAETDEGWLD VVQSLIRVIP
160 170 180 190 200
LEDPLGPAVI TLLLDECPLP TKDALQKLTE ILNLNGEVAC QDSSHPAKHR
210 220 230 240 250
NTSAVLGCLA EKLAGPASIG LLSPGILEYL LQCLKLQSHP TVMLFALIAL
260 270 280 290 300
EKFAQTSENK LTISESSISD RLVTLESWAN DPDYLKRQVG FCAQWSLDNL
310 320 330 340 350
FLKEGRQLTY EKVNLSSIRA MLNSNDVSEY LKISPHGLEA RCDASSFESV
360 370 380 390 400
RCTFCVDAGV WYYEVTVVTS GVMQIGWATR DSKFLNHEGY GIGDDEYSCA
410 420 430 440 450
YDGCRQLIWY NARSKPHIHP CWKEGDTVGF LLDLNEKQMI FFLNGNQLPP
460 470 480 490 500
EKQVFSSTVS GFFAAASFMS YQQCEFNFGA KPFKYPPSMK FSTFNDYAFL
510 520 530 540 550
TAEEKIILPR HRRLALLKQV SIRENCCSLC CDEVADTQLK PCGHSDLCMD
560 570
CALQLETCPL CRKEIVSRIR QISHIS
Length:576
Mass (Da):64,180
Last modified:December 1, 2001 - v1
Checksum:i8598E43E96691F9B
GO
Isoform 2 (identifier: Q96DX4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     117-117: N → K
     118-576: Missing.

Show »
Length:117
Mass (Da):12,692
Checksum:iEBC0405D645D7D92
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti41 – 411G → C in SEMDFA. 1 Publication
VAR_075873

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei117 – 1171N → K in isoform 2. 1 PublicationVSP_023382
Alternative sequencei118 – 576459Missing in isoform 2. 1 PublicationVSP_023383Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB075852 mRNA. Translation: BAB85558.1.
AY358548 mRNA. Translation: AAQ88912.1.
AK172845 mRNA. Translation: BAD18809.1.
BC013173 mRNA. Translation: AAH13173.1.
AL834402 mRNA. Translation: CAD39064.1.
CCDSiCCDS10775.1. [Q96DX4-1]
RefSeqiNP_001292092.1. NM_001305163.1. [Q96DX4-1]
NP_001292093.1. NM_001305164.1. [Q96DX4-1]
NP_001292111.1. NM_001305182.1. [Q96DX4-2]
NP_588609.1. NM_133368.2. [Q96DX4-1]
XP_005256277.1. XM_005256220.1. [Q96DX4-1]
UniGeneiHs.460885.

Genome annotation databases

EnsembliENST00000394420; ENSP00000377942; ENSG00000159579. [Q96DX4-1]
ENST00000537866; ENSP00000443176; ENSG00000159579. [Q96DX4-1]
GeneIDi89970.
KEGGihsa:89970.
UCSCiuc002elb.4. human. [Q96DX4-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB075852 mRNA. Translation: BAB85558.1.
AY358548 mRNA. Translation: AAQ88912.1.
AK172845 mRNA. Translation: BAD18809.1.
BC013173 mRNA. Translation: AAH13173.1.
AL834402 mRNA. Translation: CAD39064.1.
CCDSiCCDS10775.1. [Q96DX4-1]
RefSeqiNP_001292092.1. NM_001305163.1. [Q96DX4-1]
NP_001292093.1. NM_001305164.1. [Q96DX4-1]
NP_001292111.1. NM_001305182.1. [Q96DX4-2]
NP_588609.1. NM_133368.2. [Q96DX4-1]
XP_005256277.1. XM_005256220.1. [Q96DX4-1]
UniGeneiHs.460885.

3D structure databases

ProteinModelPortaliQ96DX4.
SMRiQ96DX4. Positions 353-448, 488-575.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124650. 43 interactions.
IntActiQ96DX4. 2 interactions.
MINTiMINT-5006550.
STRINGi9606.ENSP00000377942.

PTM databases

iPTMnetiQ96DX4.
PhosphoSiteiQ96DX4.
SwissPalmiQ96DX4.

Polymorphism and mutation databases

BioMutaiRSPRY1.
DMDMi74731506.

Proteomic databases

EPDiQ96DX4.
MaxQBiQ96DX4.
PaxDbiQ96DX4.
PeptideAtlasiQ96DX4.
PRIDEiQ96DX4.

Protocols and materials databases

DNASUi89970.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000394420; ENSP00000377942; ENSG00000159579. [Q96DX4-1]
ENST00000537866; ENSP00000443176; ENSG00000159579. [Q96DX4-1]
GeneIDi89970.
KEGGihsa:89970.
UCSCiuc002elb.4. human. [Q96DX4-1]

Organism-specific databases

CTDi89970.
GeneCardsiRSPRY1.
HGNCiHGNC:29420. RSPRY1.
HPAiHPA003729.
MIMi616585. gene.
616723. phenotype.
neXtProtiNX_Q96DX4.
PharmGKBiPA143485602.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IR1Y. Eukaryota.
ENOG410XS5T. LUCA.
GeneTreeiENSGT00530000063442.
HOGENOMiHOG000261619.
HOVERGENiHBG057205.
InParanoidiQ96DX4.
OMAiSIRDNCC.
OrthoDBiEOG7NCV36.
PhylomeDBiQ96DX4.
TreeFamiTF313546.

Miscellaneous databases

ChiTaRSiRSPRY1. human.
GenomeRNAii89970.
PROiQ96DX4.
SOURCEiSearch...

Gene expression databases

BgeeiQ96DX4.
CleanExiHS_RSPRY1.
ExpressionAtlasiQ96DX4. baseline and differential.
GenevisibleiQ96DX4. HS.

Family and domain databases

Gene3Di3.30.40.10. 1 hit.
InterProiIPR016024. ARM-type_fold.
IPR001870. B30.2/SPRY.
IPR013320. ConA-like_dom.
IPR003877. SPRY_dom.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PfamiPF00622. SPRY. 1 hit.
[Graphical view]
SMARTiSM00184. RING. 1 hit.
SM00449. SPRY. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 1 hit.
SSF49899. SSF49899. 1 hit.
PROSITEiPS50188. B302_SPRY. 1 hit.
PS50089. ZF_RING_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins."
    Nagase T., Kikuno R., Ohara O.
    DNA Res. 8:319-327(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  4. "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] (ISOFORM 1).
    Tissue: Lymph.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 492-576 (ISOFORM 1).
    Tissue: Brain.
  6. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.
  7. Cited for: INVOLVEMENT IN SEMDFA, VARIANT SEMDFA CYS-41.

Entry informationi

Entry nameiRSPRY_HUMAN
AccessioniPrimary (citable) accession number: Q96DX4
Secondary accession number(s): Q6UX21, Q8ND53
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 20, 2007
Last sequence update: December 1, 2001
Last modified: July 6, 2016
This is version 111 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 16
    Human chromosome 16: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. 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.