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Protein

RING finger and transmembrane domain-containing protein 1

Gene

RNFT1

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

Functioni

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri375 – 41339RING-typePROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

Complete GO annotation...

Keywords - Ligandi

Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
RING finger and transmembrane domain-containing protein 1
Alternative name(s):
Protein PTD016
Gene namesi
Name:RNFT1
ORF Names:PTD016
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:30206. RNFT1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei158 – 17821HelicalSequence analysisAdd
BLAST
Transmembranei203 – 22321HelicalSequence analysisAdd
BLAST
Transmembranei233 – 25321HelicalSequence analysisAdd
BLAST
Transmembranei256 – 27621HelicalSequence analysisAdd
BLAST
Transmembranei298 – 31821HelicalSequence analysisAdd
BLAST
Transmembranei323 – 34321HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162401921.

Polymorphism and mutation databases

BioMutaiRNFT1.
DMDMi121947809.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 435435RING finger and transmembrane domain-containing protein 1PRO_0000320635Add
BLAST

Proteomic databases

EPDiQ5M7Z0.
MaxQBiQ5M7Z0.
PaxDbiQ5M7Z0.
PeptideAtlasiQ5M7Z0.
PRIDEiQ5M7Z0.

PTM databases

iPTMnetiQ5M7Z0.
PhosphoSiteiQ5M7Z0.

Expressioni

Tissue specificityi

Expressed at highest levels in testis, lower levels in heart, liver, lung, and kidney. Not detected in brain, ovary, and uterus. Down-regulated in testis from patients with maturation arrest (MA) or Sertoli cell-only syndrome (SCOS).1 Publication

Gene expression databases

BgeeiQ5M7Z0.
CleanExiHS_RNFT1.
ExpressionAtlasiQ5M7Z0. baseline and differential.
GenevisibleiQ5M7Z0. HS.

Organism-specific databases

HPAiHPA013739.

Interactioni

Protein-protein interaction databases

BioGridi119323. 5 interactions.
IntActiQ5M7Z0. 2 interactions.
STRINGi9606.ENSP00000304670.

Structurei

3D structure databases

ProteinModelPortaliQ5M7Z0.
SMRiQ5M7Z0. Positions 375-429.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Contains 1 RING-type zinc finger.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri375 – 41339RING-typePROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Transmembrane, Transmembrane helix, Zinc-finger

Phylogenomic databases

eggNOGiKOG0802. Eukaryota.
KOG4638. Eukaryota.
ENOG410XTGA. LUCA.
GeneTreeiENSGT00390000014213.
HOGENOMiHOG000237544.
HOVERGENiHBG056546.
InParanoidiQ5M7Z0.
OMAiIFCEECM.
OrthoDBiEOG70S75D.
PhylomeDBiQ5M7Z0.
TreeFamiTF331930.

Family and domain databases

Gene3Di3.30.40.10. 1 hit.
InterProiIPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
IPR017907. Znf_RING_CS.
[Graphical view]
SMARTiSM00184. RING. 1 hit.
[Graphical view]
PROSITEiPS00518. ZF_RING_1. 1 hit.
PS50089. ZF_RING_2. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q5M7Z0-1) [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
MPLFLLSLPT PPSASGHERR QRPEAKTSGS EKKYLRAMQA NRSQLHSPPG
60 70 80 90 100
TGSSEDASTP QCVHTRLTGE GSCPHSGDVH IQINSIPKEC AENASSRNIR
110 120 130 140 150
SGVHSCAHGC VHSRLRGHSH SEARLTDDTA AESGDHGSSS FSEFRYLFKW
160 170 180 190 200
LQKSLPYILI LSVKLVMQHI TGISLGIGLL TTFMYANKSI VNQVFLRERS
210 220 230 240 250
SKIQCAWLLV FLAGSSVLLY YTFHSQSLYY SLIFLNPTLD HLSFWEVFWI
260 270 280 290 300
VGITDFILKF FFMGLKCLIL LVPSFIMPFK SKGYWYMLLE ELCQYYRTFV
310 320 330 340 350
PIPVWFRYLI SYGEFGNVTR WSLGILLALL YLILKLLEFF GHLRTFRQVL
360 370 380 390 400
RIFFTQPSYG VAASKRQCSD VDDICSICQA EFQKPILLIC QHIFCEECMT
410 420 430
LWFNREKTCP LCRTVISDHI NKWKDGATSS HLQIY
Length:435
Mass (Da):49,710
Last modified:September 19, 2006 - v2
Checksum:i60773323485B08A8
GO
Isoform 2 (identifier: Q5M7Z0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     198-203: ERSSKI → VSITSN
     204-435: Missing.

Note: No experimental confirmation available.Curated
Show »
Length:203
Mass (Da):22,149
Checksum:i3F8B8C99D6424341
GO
Isoform 3 (identifier: Q5M7Z0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     198-245: ERSSKIQCAW...NPTLDHLSFW → LNFFKSYFGP...FIGAFFHHAF
     246-435: Missing.

Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:245
Mass (Da):27,302
Checksum:i4F77053348078907
GO

Sequence cautioni

The sequence AAD43009.1 differs from that shown. Reason: Frameshift at positions 150 and 167. Curated
Isoform 2 : The sequence AAD43009.1 differs from that shown. Reason: Frameshift at position 199. Curated
The sequence BAC05364.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Isoform 2 (identifier: Q5M7Z0-2)
Sequence conflicti199 – 1991S → K in AAD43009 (Ref. 1) Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei198 – 24548ERSSK…HLSFW → LNFFKSYFGPFELLGSILDC WNYRLHSEILFHGLKMPYFI GAFFHHAF in isoform 3. 1 PublicationVSP_031700Add
BLAST
Alternative sequencei198 – 2036ERSSKI → VSITSN in isoform 2. 1 PublicationVSP_031698
Alternative sequencei204 – 435232Missing in isoform 2. 1 PublicationVSP_031699Add
BLAST
Alternative sequencei246 – 435190Missing in isoform 3. 1 PublicationVSP_031701Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF100745 mRNA. Translation: AAD43009.1. Frameshift.
AC004686 mRNA. No translation available.
AC005702 mRNA. No translation available.
CH471109 Genomic DNA. Translation: EAW94381.1.
BC006971 mRNA. No translation available.
BC088365 mRNA. Translation: AAH88365.2.
AK098649 mRNA. Translation: BAC05364.1. Different initiation.
CCDSiCCDS11622.2. [Q5M7Z0-1]
RefSeqiNP_057209.3. NM_016125.3. [Q5M7Z0-1]
UniGeneiHs.531701.

Genome annotation databases

EnsembliENST00000305783; ENSP00000304670; ENSG00000189050. [Q5M7Z0-1]
ENST00000482446; ENSP00000436144; ENSG00000189050. [Q5M7Z0-3]
GeneIDi51136.
KEGGihsa:51136.
UCSCiuc002iya.4. human. [Q5M7Z0-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF100745 mRNA. Translation: AAD43009.1. Frameshift.
AC004686 mRNA. No translation available.
AC005702 mRNA. No translation available.
CH471109 Genomic DNA. Translation: EAW94381.1.
BC006971 mRNA. No translation available.
BC088365 mRNA. Translation: AAH88365.2.
AK098649 mRNA. Translation: BAC05364.1. Different initiation.
CCDSiCCDS11622.2. [Q5M7Z0-1]
RefSeqiNP_057209.3. NM_016125.3. [Q5M7Z0-1]
UniGeneiHs.531701.

3D structure databases

ProteinModelPortaliQ5M7Z0.
SMRiQ5M7Z0. Positions 375-429.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119323. 5 interactions.
IntActiQ5M7Z0. 2 interactions.
STRINGi9606.ENSP00000304670.

PTM databases

iPTMnetiQ5M7Z0.
PhosphoSiteiQ5M7Z0.

Polymorphism and mutation databases

BioMutaiRNFT1.
DMDMi121947809.

Proteomic databases

EPDiQ5M7Z0.
MaxQBiQ5M7Z0.
PaxDbiQ5M7Z0.
PeptideAtlasiQ5M7Z0.
PRIDEiQ5M7Z0.

Protocols and materials databases

DNASUi51136.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000305783; ENSP00000304670; ENSG00000189050. [Q5M7Z0-1]
ENST00000482446; ENSP00000436144; ENSG00000189050. [Q5M7Z0-3]
GeneIDi51136.
KEGGihsa:51136.
UCSCiuc002iya.4. human. [Q5M7Z0-1]

Organism-specific databases

CTDi51136.
GeneCardsiRNFT1.
HGNCiHGNC:30206. RNFT1.
HPAiHPA013739.
MIMi615172. gene.
neXtProtiNX_Q5M7Z0.
PharmGKBiPA162401921.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0802. Eukaryota.
KOG4638. Eukaryota.
ENOG410XTGA. LUCA.
GeneTreeiENSGT00390000014213.
HOGENOMiHOG000237544.
HOVERGENiHBG056546.
InParanoidiQ5M7Z0.
OMAiIFCEECM.
OrthoDBiEOG70S75D.
PhylomeDBiQ5M7Z0.
TreeFamiTF331930.

Miscellaneous databases

GenomeRNAii51136.
PROiQ5M7Z0.
SOURCEiSearch...

Gene expression databases

BgeeiQ5M7Z0.
CleanExiHS_RNFT1.
ExpressionAtlasiQ5M7Z0. baseline and differential.
GenevisibleiQ5M7Z0. HS.

Family and domain databases

Gene3Di3.30.40.10. 1 hit.
InterProiIPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
IPR017907. Znf_RING_CS.
[Graphical view]
SMARTiSM00184. RING. 1 hit.
[Graphical view]
PROSITEiPS00518. ZF_RING_1. 1 hit.
PS50089. ZF_RING_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Human PTD016 mRNA."
    Zhang Q., Guan Z., Dai M., Song H., Mao Y., Zhang Q., Mao M., Fu G., Luo M., Chen J., Hu R.
    Submitted (OCT-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Pituitary tumor.
  2. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  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] (ISOFORMS 1 AND 3).
    Tissue: Brain and Testis.
  5. "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] OF 177-435 (ISOFORM 1).
    Tissue: Testis.
  6. "Identification of ten novel genes involved in human spermatogenesis by microarray analysis of testicular tissue."
    Lin Y.H., Lin Y.M., Teng Y.N., Hsieh T.Y., Lin Y.S., Kuo P.L.
    Fertil. Steril. 86:1650-1658(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.

Entry informationi

Entry nameiRNFT1_HUMAN
AccessioniPrimary (citable) accession number: Q5M7Z0
Secondary accession number(s): Q8N7D0, Q96IZ9, Q9Y686
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: September 19, 2006
Last modified: July 6, 2016
This is version 103 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 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. 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.