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Report for CCDS41414.2 (current version)

CCDS Status Species Chrom. Gene CCDS Release NCBI Annotation Release Ensembl Annotation Release Links
41414.2 Public Homo sapiens 1 RHBG 24 110 108 CCDS HistoryNCBI Gene:57127Re-query CCDS DB by CCDS ID:41414.2Re-query CCDS DB by GeneID:57127See the combined annotation on chromosome 1 in Sequence Viewer

Public Note for CCDS 41414.1
This CCDS ID was withdrawn because the genome contains a 1 nt insertion and cannot represent the updated protein. The genome contains an extra 'C' at codon 424, which results in a frameshift and a protein with a different C-terminus compared to that encoded by AF193807.1, AY139092.1 and AY139093.1. Experimental evidence in PMID:18635543 indicates that residues downstream of aa 424 are important for phosphorylation of the 458 aa protein represented by the update, and this phosphorylation regulates both C-terminal anchorage to the membrane skeleton and the ammonium transport activity of the protein. The updated protein is supported by homologs in several mammalian species, including mouse NP_067350.2 (CCDS17466.1), rat NP_898877.1, dog NP_001003017.2, and pig NP_999161.1. It is possible that the additional 'C' in the reference genome sequence represents a valid polymorphism, but currently the representative SNPs (rs11303415 and rs60769529) have not been validated and no population diversity data exist for them.

Public since: CCDS release 5, NCBI annotation release 36.3, Ensembl annotation release 47

Review status: Reviewed (by RefSeq, Havana and CCDS collaboration)

Sequence IDs included in CCDS 41414.2

Original Current Source Nucleotide ID Protein ID MANE Status in CCDS Seq. Status Links
Original member Current member EBI ENST00000537040.6 ENSP00000441197.2 MANE Select Accepted alive Link to Ensembl Transcript Viewer:ENST00000537040.6Link to Ensembl Protein Viewer:ENSP00000441197.2Re-query CCDS DB by Nucleotide ID:ENST00000537040Re-query CCDS DB by Protein ID:ENSP00000441197
Original member Current member NCBI NM_020407.5 NP_065140.3 MANE Select Accepted alive Link to Nucleotide Sequence:NM_020407.5Link to Protein Sequence:NP_065140.3Re-query CCDS DB by Nucleotide ID:NM_020407Re-query CCDS DB by Protein ID:NP_065140Link to BLAST:NP_065140.3

RefSeq Length Related UniProtKB/SwissProt Length Identity Gaps Mismatches
NP_065140.3 458 Q9H310-1 458 100% 0 0

Chromosomal Locations for CCDS 41414.2

Assembly GRCh38.p14 (GCF_000001405.40)

On '+' strand of Chromosome 1 (NC_000001.11)
Genome Browser links: Link to NCBI NucleotideLink to UCSC Genome Browser on chromosome 1Link to Ensembl Genome Browser on chromosome 1See the combined annotation on chromosome 1 in Sequence Viewer

Chromosome Start Stop Links
1 156369250 156369436 Link to NCBI NucleotideLink to UCSC Genome Browser on chromosome 1Link to Ensembl Genome Browser on chromosome 1
1 156377301 156377487 Link to NCBI NucleotideLink to UCSC Genome Browser on chromosome 1Link to Ensembl Genome Browser on chromosome 1
1 156377990 156378140 Link to NCBI NucleotideLink to UCSC Genome Browser on chromosome 1Link to Ensembl Genome Browser on chromosome 1
1 156378252 156378399 Link to NCBI NucleotideLink to UCSC Genome Browser on chromosome 1Link to Ensembl Genome Browser on chromosome 1
1 156381347 156381513 Link to NCBI NucleotideLink to UCSC Genome Browser on chromosome 1Link to Ensembl Genome Browser on chromosome 1
1 156381806 156381943 Link to NCBI NucleotideLink to UCSC Genome Browser on chromosome 1Link to Ensembl Genome Browser on chromosome 1
1 156382068 156382201 Link to NCBI NucleotideLink to UCSC Genome Browser on chromosome 1Link to Ensembl Genome Browser on chromosome 1
1 156382748 156382869 Link to NCBI NucleotideLink to UCSC Genome Browser on chromosome 1Link to Ensembl Genome Browser on chromosome 1
1 156384527 156384600 Link to NCBI NucleotideLink to UCSC Genome Browser on chromosome 1Link to Ensembl Genome Browser on chromosome 1
1 156384777 156384845 Link to NCBI NucleotideLink to UCSC Genome Browser on chromosome 1Link to Ensembl Genome Browser on chromosome 1

CCDS Sequence Data
Blue highlighting indicates alternating exons.
Red highlighting indicates amino acids encoded across a splice junction.
 
Mouse over the nucleotide or protein sequence below and click on the highlighted codon or residue to select the pair.

Nucleotide Sequence (1377 nt):
ATGGCCGGGTCTCCTAGCCGCGCCGCGGGCCGGCGACTGCAGCTTCCCCTGCTGTGCCTCTTCCTCCAGG
GC
GCCACTGCCGTCCTCTTTGCTGTCTTTGTCCGCTACAACCACAAAACCGACGCTGCCCTCTGGCACCG
G
AGCAACCACAGTAACGCGGACAATGAATTTTACTTTCGCTACCCAAGCTTCCAGGACGTGCATGCCATG
GTC
TTCGTGGGCTTTGGCTTCCTCATGGTCTTCCTGCAGCGTTACGGCTTCAGCAGCGTGGGCTTCACCT
TC
CTCCTGGCCGCCTTTGCCCTGCAGTGGTCCACACTGGTCCAGGGCTTTCTCCACTCCTTCCACGGTGG
C
CACATCCATGTTGGCGTGGAGAGCATGATCAATGCTGACTTTTGTGCGGGGGCCGTGCTCATCTCCTTT
GGT
GCCGTCCTGGGCAAGACCGGGCCTACCCAGCTGCTGCTCATGGCCCTGCTGGAGGTGGTGCTGTTTG
GC
ATCAATGAGTTTGTGCTCCTTCATCTCCTGGGGGTGAGAGATGCCGGAGGCTCCATGACTATCCACAC
C
TTTGGTGCCTACTTCGGGCTCGTCCTTTCGCGGGTTCTGTACAGGCCCCAGCTGGAGAAGAGCAAGCAC
CGC
CAGGGCTCCGTCTACCATTCAGACCTCTTCGCCATGATTGGGACCATCTTCCTGTGGATCTTCTGGC
CT
AGCTTCAATGCTGCACTCACAGCGCTGGGGGCTGGGCAGCATCGGACGGCCCTCAACACATACTACTC
C
CTGGCTGCCAGCACCCTTGGCACCTTTGCCTTGTCAGCCCTTGTAGGGGAAGATGGGAGGCTTGACATG
GTC
CACATCCAAAATGCAGCGCTGGCTGGAGGGGTTGTGGTGGGGACCTCAAGTGAAATGATGCTGACAC
CC
TTTGGGGCTCTGGCAGCTGGCTTCTTGGCTGGGACTGTCTCCACGCTGGGGTACAAGTTCTTCACGCC
C
ATCCTTGAATCAAAATTCAAAGTCCAAGACACATGTGGAGTCCACAACCTCCATGGGATGCCGGGGGTC
CTG
GGGGCCCTCCTGGGGGTCCTTGTGGCTGGACTTGCCACCCATGAAGCTTACGGAGATGGCCTGGAGA
GT
GTGTTTCCACTCATAGCCGAGGGCCAGCGCAGTGCCACGTCACAGGCCATGCACCAGCTCTTCGGGCT
G
TTTGTCACACTGATGTTTGCCTCTGTGGGCGGGGGCCTTGGAGGGCTCCTGCTGAAGCTACCCTTTCTG
GAC
TCCCCCCCAGACTCCCAGCACTACGAGGACCAAGTTCACTGGCAGGTGCCTGGCGAGCATGAGGATA
AA
GCCCAGAGACCTCTGAGGGTGGAGGAGGCAGACACTCAGGCCTAA


Translation (458 aa):
MAGSPSRAAGRRLQLPLLCLFLQGATAVLFAVFVRYNHKTDAALWHRSNHSNADNEFYFRYPSFQDVHAM
V
FVGFGFLMVFLQRYGFSSVGFTFLLAAFALQWSTLVQGFLHSFHGGHIHVGVE
SMINADFCAGAVLISF
G
AVLGKTGPTQLLLMALLEVVLFGINEFVLLHLLG
VRDAGGSMTIHTFGAYFGLVLSRVLYRPQLEKSKH
R
QGSVYHSDLFAMI
GTIFLWIFWPSFNAALTALGAGQHRTALNTYYSLAASTLGTFALSALVGEDGRLDM
V
HIQNAALAGGVVVGTSSEMMLTPFGALAAGFLAGTVSTLGYKFFT
PILESKFKVQDTCGVHNLHGMPGV
L
GALLGVLVAGLATHEAYGD
GLESVFPLIAEGQRSATSQAMHQLFGLFVTLMFASVGGGLGGLLLKLPFL
D
SPPDSQHYEDQVHWQ
VPGEHEDKAQRPLRVEEADTQA



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