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Q8N3F0

- MTURN_HUMAN

UniProt

Q8N3F0 - MTURN_HUMAN

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Protein

Maturin

Gene

MTURN

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

Functioni

May be involved in early neuronal development.By similarity

GO - Biological processi

  1. multicellular organismal development Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Names & Taxonomyi

Protein namesi
Recommended name:
Maturin
Alternative name(s):
Maturin neural progenitor differentiation regulator protein homolog
Protein Ells1
Gene namesi
Name:MTURN
Synonyms:C7orf41
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:25457. MTURN.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA147358571.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 131131MaturinPRO_0000294233Add
BLAST

Proteomic databases

MaxQBiQ8N3F0.
PaxDbiQ8N3F0.
PRIDEiQ8N3F0.

PTM databases

PhosphoSiteiQ8N3F0.

Expressioni

Gene expression databases

BgeeiQ8N3F0.
CleanExiHS_C7orf41.
ExpressionAtlasiQ8N3F0. baseline and differential.
GenevestigatoriQ8N3F0.

Organism-specific databases

HPAiHPA029507.

Interactioni

Protein-protein interaction databases

BioGridi128785. 4 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ8N3F0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi115 – 1206Poly-Glu

Sequence similaritiesi

Belongs to the MTURN family.Curated

Phylogenomic databases

eggNOGiNOG39592.
GeneTreeiENSGT00500000045044.
HOGENOMiHOG000069946.
HOVERGENiHBG107664.
InParanoidiQ8N3F0.
OMAiTDNFHVW.
OrthoDBiEOG7M0NT8.
PhylomeDBiQ8N3F0.
TreeFamiTF332814.

Family and domain databases

InterProiIPR027892. DUF4581.
[Graphical view]
PANTHERiPTHR32008. PTHR32008. 1 hit.
PfamiPF15167. DUF4581. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8N3F0) [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
MDFQQLADVA EKWCSNTPFE LIATEETERR MDFYADPGVS FYVLCPDNGC
60 70 80 90 100
GDNFHVWSES EDCLPFLQLA QDYISSCGKK TLHEVLEKVF KSFRPLLGLP
110 120 130
DADDDAFEEY SADVEEEEPE ADHPQMGVSQ Q
Length:131
Mass (Da):14,925
Last modified:September 13, 2004 - v2
Checksum:iBD60297F085B5C59
GO
Isoform 2 (identifier: Q8N3F0-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     95-131: PLLGLPDADDDAFEEYSADVEEEEPEADHPQMGVSQQ → GLISAVHALPVETWLFFVLWQTGALEVVYV

Note: No experimental confirmation available.

Show »
Length:124
Mass (Da):14,210
Checksum:i3B6E4F858C4ADE6B
GO
Isoform 3 (identifier: Q8N3F0-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-54: MDFQQLADVAEKWCSNTPFELIATEETERRMDFYADPGVSFYVLCPDNGCGDNF → MATHCPLYCVGADLMMNRAGE

Note: No experimental confirmation available.

Show »
Length:98
Mass (Da):11,021
Checksum:i57FD332B2474E7E1
GO
Isoform 4 (identifier: Q8N3F0-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     55-95: Missing.

Note: No experimental confirmation available.

Show »
Length:90
Mass (Da):10,147
Checksum:iCC401B373E028696
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti82 – 821L → P in BAC04811. (PubMed:14702039)Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 5454MDFQQ…CGDNF → MATHCPLYCVGADLMMNRAG E in isoform 3. 1 PublicationVSP_026608Add
BLAST
Alternative sequencei55 – 9541Missing in isoform 4. CuratedVSP_053525Add
BLAST
Alternative sequencei95 – 13137PLLGL…GVSQQ → GLISAVHALPVETWLFFVLW QTGALEVVYV in isoform 2. 1 PublicationVSP_026609Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY054121 mRNA. Translation: AAL14866.1.
AK096533 mRNA. Translation: BAC04811.1.
AK098769 mRNA. Translation: BAC05408.1.
AL834391 mRNA. Translation: CAD39053.2.
AC007036 Genomic DNA. No translation available.
CCDSiCCDS5425.2. [Q8N3F0-1]
RefSeqiNP_690006.2. NM_152793.2. [Q8N3F0-1]
XP_005249709.1. XM_005249652.1. [Q8N3F0-1]
UniGeneiHs.200100.

Genome annotation databases

EnsembliENST00000324453; ENSP00000324204; ENSG00000180354. [Q8N3F0-1]
ENST00000324489; ENSP00000324755; ENSG00000180354. [Q8N3F0-3]
ENST00000409688; ENSP00000386490; ENSG00000180354. [Q8N3F0-4]
GeneIDi222166.
KEGGihsa:222166.
UCSCiuc003tar.1. human. [Q8N3F0-1]

Polymorphism databases

DMDMi74714835.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY054121 mRNA. Translation: AAL14866.1 .
AK096533 mRNA. Translation: BAC04811.1 .
AK098769 mRNA. Translation: BAC05408.1 .
AL834391 mRNA. Translation: CAD39053.2 .
AC007036 Genomic DNA. No translation available.
CCDSi CCDS5425.2. [Q8N3F0-1 ]
RefSeqi NP_690006.2. NM_152793.2. [Q8N3F0-1 ]
XP_005249709.1. XM_005249652.1. [Q8N3F0-1 ]
UniGenei Hs.200100.

3D structure databases

ProteinModelPortali Q8N3F0.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 128785. 4 interactions.

PTM databases

PhosphoSitei Q8N3F0.

Polymorphism databases

DMDMi 74714835.

Proteomic databases

MaxQBi Q8N3F0.
PaxDbi Q8N3F0.
PRIDEi Q8N3F0.

Protocols and materials databases

DNASUi 222166.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000324453 ; ENSP00000324204 ; ENSG00000180354 . [Q8N3F0-1 ]
ENST00000324489 ; ENSP00000324755 ; ENSG00000180354 . [Q8N3F0-3 ]
ENST00000409688 ; ENSP00000386490 ; ENSG00000180354 . [Q8N3F0-4 ]
GeneIDi 222166.
KEGGi hsa:222166.
UCSCi uc003tar.1. human. [Q8N3F0-1 ]

Organism-specific databases

CTDi 222166.
GeneCardsi GC07P030174.
H-InvDB HIX0006564.
HGNCi HGNC:25457. MTURN.
HPAi HPA029507.
neXtProti NX_Q8N3F0.
PharmGKBi PA147358571.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG39592.
GeneTreei ENSGT00500000045044.
HOGENOMi HOG000069946.
HOVERGENi HBG107664.
InParanoidi Q8N3F0.
OMAi TDNFHVW.
OrthoDBi EOG7M0NT8.
PhylomeDBi Q8N3F0.
TreeFami TF332814.

Miscellaneous databases

ChiTaRSi C7orf41. human.
GenomeRNAii 222166.
NextBioi 35481847.

Gene expression databases

Bgeei Q8N3F0.
CleanExi HS_C7orf41.
ExpressionAtlasi Q8N3F0. baseline and differential.
Genevestigatori Q8N3F0.

Family and domain databases

InterProi IPR027892. DUF4581.
[Graphical view ]
PANTHERi PTHR32008. PTHR32008. 1 hit.
Pfami PF15167. DUF4581. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "A high-resolution 5.0-Megabase transcript map of the CMT2D region on human chromosome 7."
    Ellsworth R.E., Lee Lin S.-Q., Green E.D.
    Submitted (AUG-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
  2. "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] (ISOFORMS 1 AND 2).
    Tissue: Brain.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Amygdala.
  4. "The DNA sequence of human chromosome 7."
    Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
    , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
    Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

Entry informationi

Entry nameiMTURN_HUMAN
AccessioniPrimary (citable) accession number: Q8N3F0
Secondary accession number(s): B8ZZW9
, Q8N791, Q8N8M4, Q8NEX2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 10, 2007
Last sequence update: September 13, 2004
Last modified: October 29, 2014
This is version 75 of the entry and version 2 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 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3